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Point-scanning imaging systems are among the most widely used tools for high-resolution cellular and tissue imaging, benefiting from arbitrarily defined pixel sizes. The resolution, speed, sample preservation and signal-to-noise ratio (SNR) of point-scanning systems are difficult to optimize simultaneously. We show these limitations can be mitigated via the use of deep learning-based supersampling of undersampled images acquired on a point-scanning system, which we term point-scanning super-resolution (PSSR) imaging. We designed a 'crappifier' that computationally degrades high SNR, high-pixel resolution ground truth images to simulate low SNR, low-resolution counterparts for training PSSR models that can restore real-world undersampled images. For high spatiotemporal resolution fluorescence time-lapse data, we developed a 'multi-frame' PSSR approach that uses information in adjacent frames to improve model predictions. PSSR facilitates point-scanning image acquisition with otherwise unattainable resolution, speed and sensitivity. All the training data, models and code for PSSR are publicly available at 3DEM.org.
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Aprendizado Profundo , Algoritmos , Microscopia Eletrônica/métodos , Razão Sinal-RuídoRESUMO
The science around the use of masks by the public to impede COVID-19 transmission is advancing rapidly. In this narrative review, we develop an analytical framework to examine mask usage, synthesizing the relevant literature to inform multiple areas: population impact, transmission characteristics, source control, wearer protection, sociological considerations, and implementation considerations. A primary route of transmission of COVID-19 is via respiratory particles, and it is known to be transmissible from presymptomatic, paucisymptomatic, and asymptomatic individuals. Reducing disease spread requires two things: limiting contacts of infected individuals via physical distancing and other measures and reducing the transmission probability per contact. The preponderance of evidence indicates that mask wearing reduces transmissibility per contact by reducing transmission of infected respiratory particles in both laboratory and clinical contexts. Public mask wearing is most effective at reducing spread of the virus when compliance is high. Given the current shortages of medical masks, we recommend the adoption of public cloth mask wearing, as an effective form of source control, in conjunction with existing hygiene, distancing, and contact tracing strategies. Because many respiratory particles become smaller due to evaporation, we recommend increasing focus on a previously overlooked aspect of mask usage: mask wearing by infectious people ("source control") with benefits at the population level, rather than only mask wearing by susceptible people, such as health care workers, with focus on individual outcomes. We recommend that public officials and governments strongly encourage the use of widespread face masks in public, including the use of appropriate regulation.
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COVID-19 , Busca de Comunicante , Máscaras , SARS-CoV-2 , COVID-19/epidemiologia , COVID-19/prevenção & controle , HumanosRESUMO
BACKGROUND: The interplay between the gut microbiota and feeding behavior has consequences for host metabolism and health. The present study aimed to explore gut microbiota overall influence on feeding behavior traits and to identify specific microbes associated with the traits in three commercial swine breeds at three growth stages. Feeding behavior measures were obtained from 651 pigs of three breeds (Duroc, Landrace, and Large White) from an average 73 to 163 days of age. Seven feeding behavior traits covered the information of feed intake, feeder occupation time, feeding rate, and the number of visits to the feeder. Rectal swabs were collected from each pig at 73 ± 3, 123 ± 4, and 158 ± 4 days of age. DNA was extracted and subjected to 16 S rRNA gene sequencing. RESULTS: Differences in feeding behavior traits among breeds during each period were found. The proportion of phenotypic variances of feeding behavior explained by the gut microbial composition was small to moderate (ranged from 0.09 to 0.31). A total of 21, 10, and 35 amplicon sequence variants were found to be significantly (q-value < 0.05) associated with feeding behavior traits for Duroc, Landrace, and Large White across the three sampling time points. The identified amplicon sequence variants were annotated to five phyla, with Firmicutes being the most abundant. Those amplicon sequence variants were assigned to 28 genera, mainly including Christensenellaceae_R-7_group, Ruminococcaceae_UCG-004, Dorea, Ruminococcaceae_UCG-014, and Marvinbryantia. CONCLUSIONS: This study demonstrated the importance of the gut microbial composition in interacting with the host feeding behavior and identified multiple archaea and bacteria associated with feeding behavior measures in pigs from either Duroc, Landrace, or Large White breeds at three growth stages. Our study provides insight into the interaction between gut microbiota and feeding behavior and highlights the genetic background and age effects in swine microbial studies.
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Comportamento Alimentar , Microbioma Gastrointestinal , Suínos/genética , Animais , Archaea/classificação , Archaea/genética , Archaea/isolamento & purificação , Bactérias/classificação , Bactérias/genética , Bactérias/isolamento & purificação , Microbioma Gastrointestinal/genética , Fenótipo , RNA Ribossômico 16S/genética , Suínos/crescimento & desenvolvimento , Suínos/microbiologiaRESUMO
BACKGROUND: There is an increasing need to account for genotype-by-environment (G × E) interactions in livestock breeding programs to improve productivity and animal welfare across environmental and management conditions. This is even more relevant for pigs because selection occurs in high-health nucleus farms, while commercial pigs are raised in more challenging environments. In this study, we used single-step homoscedastic and heteroscedastic genomic reaction norm models (RNM) to evaluate G × E interactions in Large White pigs, including 8686 genotyped animals, for reproduction (total number of piglets born, TNB; total number of piglets born alive, NBA; total number of piglets weaned, NW), growth (weaning weight, WW; off-test weight, OW), and body composition (ultrasound muscle depth, MD; ultrasound backfat thickness, BF) traits. Genetic parameter estimation and single-step genome-wide association studies (ssGWAS) were performed for each trait. RESULTS: The average performance of contemporary groups (CG) was estimated and used as environmental gradient in the reaction norm analyses. We found that the need to consider heterogeneous residual variance in RNM models was trait dependent. Based on estimates of variance components of the RNM slope and of genetic correlations across environmental gradients, G × E interactions clearly existed for TNB and NBA, existed for WW but were of smaller magnitude, and were not detected for NW, OW, MD, and BF. Based on estimates of the genetic variance explained by the markers in sliding genomic windows in ssGWAS, several genomic regions were associated with the RNM slope for TNB, NBA, and WW, indicating specific biological mechanisms underlying environmental sensitivity, and dozens of novel candidate genes were identified. Our results also provided strong evidence that the X chromosome contributed to the intercept and slope of RNM for litter size traits in pigs. CONCLUSIONS: We provide a comprehensive description of G × E interactions in Large White pigs for economically-relevant traits and identified important genomic regions and candidate genes associated with GxE interactions on several autosomes and the X chromosome. Implementation of these findings will contribute to more accurate genomic estimates of breeding values by considering G × E interactions, in order to genetically improve the environmental robustness of maternal-line pigs.
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Interação Gene-Ambiente , Herança Materna , Suínos/genética , Aumento de Peso/genética , Animais , Composição Corporal/genética , Feminino , Masculino , Modelos Genéticos , Característica Quantitativa Herdável , Reprodução/genética , Suínos/fisiologiaRESUMO
The greatest physiological threat to terrestrial life is dehydration; however, examining the factors that influence water balance in a teaching setting can be problematic. The proposed exercise examines cutaneous water loss using gelatin frogs. The use of models provides a unique approach to learning about water loss without the need of Institutional Animal Care and Use Committee approval or specialized equipment to measure dehydration from relatively small invertebrates. The first described hands-on experiment examines gelatin frogs of different sizes to understand how surface area-to-volume ratio impacts water loss. The second experiment exposes gelatin models to various conditions, such as convective air currents (wind) or extreme temperature, to understand how abiotic factors influence the vapor pressure deficit between the animal and environment and thus water loss. These easily adaptable activities use everyday household items and can be scaled accordingly to classes of different sizes and academic levels. Thus these flexible exercises can be approached through facilitated, guided, or open inquiry, as students formulate hypotheses, design the experiments, create graphs, and interpret the data through answering questions or a write up.
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Regulação da Temperatura Corporal , Água , Animais , Humanos , Equilíbrio HidroeletrolíticoRESUMO
Inbreeding depression is a growing concern in livestock because it can detrimentally affect animal fitness, health, and production levels. Genomic information can be used to more effectively capture variance in Mendelian sampling, thereby enabling more accurate estimation of inbreeding, but further progress is still required. The calculation of inbreeding for herd management purposes is largely still done using pedigree information only, although inbreeding coefficients calculated in this manner have been shown to be less accurate than genomic inbreeding measures. Continuous stretches of homozygous genotypes, so called runs of homozygosity, have been shown to provide a better estimate of autozygosity at the genomic level than conventional measures based on inbreeding coefficients calculated through conventional pedigree information or even genomic relationship matrices. For improved and targeted management of genomic inbreeding at the population level, the development of methods that incorporate genomic information in mate selection programs may provide a more precise tool for reducing the detrimental effects of inbreeding in dairy herds. Additionally, a better understanding of the genomic architecture of inbreeding and incorporating that knowledge into breeding programs could significantly refine current practices. Opportunities to maintain high levels of genetic progress in traits of interest while managing homozygosity and sustaining acceptable levels of heterozygosity in highly selected dairy populations exist and should be examined more closely for continued sustainability of both the dairy cattle population as well as the dairy industry. The inclusion of precise genomic measures of inbreeding, such as runs of homozygosity, inbreeding, and mating programs, may provide a path forward. In this symposium review article, we describe traditional measures of inbreeding and the recent developments made toward more precise measures of homozygosity using genomic information. The effects of homozygosity resulting from inbreeding on phenotypes, the identification and mapping of detrimental homozygosity haplotypes, management of inbreeding with genomic data, and areas in need of further research are discussed.
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Bovinos/genética , Homozigoto , Depressão por Endogamia , Endogamia , Animais , Cruzamento , Indústria de Laticínios , Genoma , Haplótipos , Linhagem , Fenótipo , Condicionamento Físico Animal , ReproduçãoRESUMO
Simulated and swine industry data sets were utilized to assess the impact of removing older data on the predictive ability of selection candidate estimated breeding values (EBV) when using single-step genomic best linear unbiased prediction (ssGBLUP). Simulated data included thirty replicates designed to mimic the structure of swine data sets. For the simulated data, varying amounts of data were truncated based on the number of ancestral generations back from the selection candidates. The swine data sets consisted of phenotypic and genotypic records for three traits across two breeds on animals born from 2003 to 2017. Phenotypes and genotypes were iteratively removed 1 year at a time based on the year an animal was born. For the swine data sets, correlations between corrected phenotypes (Cp) and EBV were used to evaluate the predictive ability on young animals born in 2016-2017. In the simulated data set, keeping data two generations back or greater resulted in no statistical difference (p-value > 0.05) in the reduction in the true breeding value at generation 15 compared to utilizing all available data. Across swine data sets, removing phenotypes from animals born prior to 2011 resulted in a negligible or a slight numerical increase in the correlation between Cp and EBV. Truncating data is a method to alleviate computational issues without negatively impacting the predictive ability of selection candidate EBV.
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Traditionally, pedigree-based relationship coefficients have been used to manage the inbreeding and degree of inbreeding depression that exists within a population. The widespread incorporation of genomic information in dairy cattle genetic evaluations allows for the opportunity to develop and implement methods to manage populations at the genomic level. As a result, the realized proportion of the genome that 2 individuals share can be more accurately estimated instead of using pedigree information to estimate the expected proportion of shared alleles. Furthermore, genomic information allows genome-wide relationship or inbreeding estimates to be augmented to characterize relationships for specific regions of the genome. Region-specific stretches can be used to more effectively manage areas of low genetic diversity or areas that, when homozygous, result in reduced performance across economically important traits. The use of region-specific metrics should allow breeders to more precisely manage the trade-off between the genetic value of the progeny and undesirable side effects associated with inbreeding. Methods tailored toward more effectively identifying regions affected by inbreeding and their associated use to manage the genome at the herd level, however, still need to be developed. We have reviewed topics related to inbreeding, measures of relatedness, genetic diversity and methods to manage populations at the genomic level, and we discuss future challenges related to managing populations through implementing genomic methods at the herd and population levels.
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Bovinos/genética , Genômica , Depressão por Endogamia , Endogamia , Animais , Linhagem , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND: In nucleus populations, regions of the genome that have a high frequency of runs of homozygosity (ROH) occur and are associated with a reduction in genetic diversity, as well as adverse effects on fitness. It is currently unclear whether, and to what extent, ROH stretches persist in the crossbred genome and how genomic management in the nucleus population might impact low diversity regions and its implications on the crossbred genome. METHODS: We calculated a ROH statistic based on lengths of 5 (ROH5) or 10 (ROH10) Mb across the genome for genotyped Landrace (LA), Large White (LW) and Duroc (DU) dams. We simulated crossbred dam (LA × LW) and market [DU × (LA × LW)] animal genotypes based on observed parental genotypes and the ROH frequency was tabulated. We conducted a simulation using observed genotypes to determine the impact of minimizing parental relationships on multiple diversity metrics within nucleus herds, i.e. pedigree-(A), SNP-by-SNP relationship matrix or ROH relationship matrix. Genome-wide metrics included, pedigree inbreeding, heterozygosity and proportion of the genome in ROH of at least 5 Mb. Lastly, the genome was split into bins of increasing ROH5 frequency and, within each bin, heterozygosity, ROH5 and length (Mb) of ROH were evaluated. RESULTS: We detected regions showing high frequencies of either ROH5 and/or ROH10 across both LW and LA on SSC1, SSC4, and SSC14, and across all breeds on SSC9. Long haplotypes were shared across parental breeds and thus, regions of ROH persisted in crossbred animals. Averaged across replicates and breeds, progeny had higher levels of heterozygosity (0.0056 ± 0.002%) and lower proportion of the genome in a ROH of at least 5 Mb (-0.015 ± 0.003%) than their parental genomes when genomic relationships were constrained, while pedigree relationships resulted in negligible differences at the genomic level. Across all breeds, only genomic data was able to target low diversity regions. CONCLUSIONS: We show that long stretches of ROH present in the parents persist in crossbred animals. Furthermore, compared to using pedigree relationships, using genomic information to constrain parental relationships resulted in maintaining more genetic diversity and more effectively targeted low diversity regions.
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Cruzamento/métodos , Genoma , Homozigoto , Vigor Híbrido , Modelos Genéticos , Polimorfismo de Nucleotídeo Único , Animais , Simulação por Computador , Cruzamentos Genéticos , Feminino , Genótipo , Heterozigoto , Padrões de Herança , Desequilíbrio de Ligação , Masculino , Linhagem , SuínosRESUMO
BACKGROUND: Variation in environment, management practices, nutrition or selection objectives has led to a variety of different choices being made in the use of genetic material between countries. Differences in genome-level homozygosity between countries may give rise to regions that result in inbreeding depression to differ. The objective of this study was to characterize regions that have an impact on a runs of homozygosity (ROH) metric and estimate their association with the additive genetic effect of milk (MY), fat (FY) and protein yield (PY) and calving interval (CI) using Australia (AU) and United States (US) Jersey cows. METHODS: Genotyped cows with phenotypes on MY, FY and PY (n = 6751 US; n = 3974 AU) and CI (n = 5816 US; n = 3905 AU) were used in a two-stage analysis. A ROH statistic (ROH4Mb), which counts the frequency of a SNP being in a ROH of at least 4 Mb was calculated across the genome. In the first stage, residuals were obtained from a model that accounted for the portion explained by the estimated breeding value. In the second stage, these residuals were regressed on ROH4Mb using a single marker regression model and a gradient boosted machine (GBM) algorithm. The relationship between the additive and ROH4Mb of a region was characterized based on the (co)variance of 500 kb estimated genomic breeding values derived from a Bayesian LASSO analysis. Phenotypes to determine ROH4Mb and additive effects were residuals from the two-stage approach and yield deviations, respectively. RESULTS: Associations between yield traits and ROH4Mb were found for regions on BTA13, BTA23 and BTA25 for the US population and BTA3, BTA7, BTA17 for the AU population. Only one association (BTA7) was found for CI and ROH4Mb for the US population. Multiple potential epistatic interactions were characterized based on the GBM analysis. Lastly, the covariance sign between ROH4Mb and additive SNP effect of a region was heterogeneous across the genome. CONCLUSION: We identified multiple genomic regions associated with ROH4Mb in US and AU Jersey females. The covariance of regions impacting ROH4Mb and the additive genetic effect were positive and negative, which provides evidence that the homozygosity effect is location dependent.
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Genótipo , Endogamia , Lactação/genética , Locos de Características Quantitativas/genética , Animais , Austrália , Bovinos , Feminino , Estudo de Associação Genômica Ampla , Genômica , Humanos , Leite , Fenótipo , Polimorfismo de Nucleotídeo Único , Estados UnidosRESUMO
BACKGROUND: Dairy cattle breeding objectives are in general similar across countries, but environment and management conditions may vary, giving rise to slightly different selection pressures applied to a given trait. This potentially leads to different selection pressures to loci across the genome that, if large enough, may give rise to differential regions with high levels of homozygosity. The objective of this study was to characterize differences and similarities in the location and frequency of homozygosity related measures of Jersey dairy cows and bulls from the United States (US), Australia (AU) and New Zealand (NZ). RESULTS: The populations consisted of a subset of genotyped Jersey cows born in US (n = 1047) and AU (n = 886) and Jersey bulls progeny tested from the US (n = 736), AU (n = 306) and NZ (n = 768). Differences and similarities across populations were characterized using a principal component analysis (PCA) and a run of homozygosity (ROH) statistic (ROH45), which counts the frequency of a single nucleotide polymorphism (SNP) being in a ROH of at least 45 SNP. Regions that exhibited high frequencies of ROH45 and those that had significantly different ROH45 frequencies between populations were investigated for their association with milk yield traits. Within sex, the PCA revealed slight differentiation between the populations, with the greatest occurring between the US and NZ bulls. Regions with high levels of ROH45 for all populations were detected on BTA3 and BTA7 while several other regions differed in ROH45 frequency across populations, the largest number occurring for the US and NZ bull contrast. In addition, multiple regions with different ROH45 frequencies across populations were found to be associated with milk yield traits. CONCLUSION: Multiple regions exhibited differential ROH45 across AU, NZ and US cow and bull populations, an interpretation is that locations of the genome are undergoing differential directional selection. Two regions on BTA3 and BTA7 had high ROH45 frequencies across all populations and will be investigated further to determine the gene(s) undergoing directional selection.
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Bovinos/genética , Homozigoto , Animais , Austrália , Indústria de Laticínios , Feminino , Variação Genética , Genoma , Estudo de Associação Genômica Ampla , Masculino , Nova Zelândia , Fenótipo , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Seleção Artificial , Estados UnidosRESUMO
BACKGROUND: Feed intake and growth are economically important traits in swine production. Previous genome wide association studies (GWAS) have utilized average daily gain or daily feed intake to identify regions that impact growth and feed intake across time. The use of longitudinal models in GWAS studies, such as random regression, allows for SNPs having a heterogeneous effect across the trajectory to be characterized. The objective of this study is therefore to conduct a single step GWAS (ssGWAS) on the animal polynomial coefficients for feed intake and growth. RESULTS: Corrected daily feed intake (DFI Adj) and average daily weight measurements (DBW Avg) on 8981 (n=525,240 observations) and 5643 (n=283,607 observations) animals were utilized in a random regression model using Legendre polynomials (order=2) and a relationship matrix that included genotyped and un-genotyped animals. A ssGWAS was conducted on the animal polynomials coefficients (intercept, linear and quadratic) for animals with genotypes (DFIAdj: n=855; DBWAvg: n=590). Regions were characterized based on the variance of 10-SNP sliding windows GEBV (WGEBV). A bootstrap analysis (n=1000) was conducted to declare significance. Heritability estimates for the traits trajectory ranged from 0.34-0.52 to 0.07-0.23 for DBWAvg and DFIAdj, respectively. Genetic correlations across age classes were large and positive for both DBWAvg and DFIAdj, albeit age classes at the beginning had a small to moderate genetic correlation with age classes towards the end of the trajectory for both traits. The WGEBV variance explained by significant regions (P<0.001) for each polynomial coefficient ranged from 0.2-0.9 to 0.3-1.01% for DBWAvg and DFIAdj, respectively. The WGEBV variance explained by significant regions for the trajectory was 1.54 and 1.95% for DBWAvg and DFIAdj. Both traits identified candidate genes with functions related to metabolite and energy homeostasis, glucose and insulin signaling and behavior. CONCLUSIONS: We have identified regions of the genome that have an impact on the intercept, linear and quadratic terms for DBWAvg and DFIAdj. These results provide preliminary evidence that individual growth and feed intake trajectories are impacted by different regions of the genome at different times.
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Estudo de Associação Genômica Ampla , Locos de Características Quantitativas , Característica Quantitativa Herdável , Animais , Peso Corporal , Ingestão de Alimentos , Estudos de Associação Genética , SuínosRESUMO
Cattle are reared in diverse environments and collecting phenotypic body temperature (BT) measurements to characterize BT variation across diverse environments is difficult and expensive. To better understand the genetic basis of BT regulation, a genome-wide association study was conducted utilizing crossbred steers and heifers totaling 239 animals of unknown pedigree and breed fraction. During predicted extreme heat and cold stress events, hourly tympanic and vaginal BT devices were placed in steers and heifers, respectively. Individuals were genotyped with the BovineSNP50K_v2 assay and data analyzed using Bayesian models for area under the curve (AUC), a measure of BT over time, using hourly BT observations summed across 5-days (AUC summer 5-day (AUCS5D) and AUC winter 5-day (AUCW5D)). Posterior heritability estimates were moderate to high and were estimated to be 0.68 and 0.21 for AUCS5D and AUCW5D, respectively. Moderately positive correlations between direct genomic values for AUCS5D and AUCW5D (0.40) were found, although a small percentage of the top 5% 1-Mb windows were in common. Different sets of genes were associated with BT during winter and summer, thus simultaneous selection for animals tolerant to both heat and cold appears possible.
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Temperatura Corporal/genética , Bovinos/genética , Temperatura Baixa/efeitos adversos , Temperatura Alta/efeitos adversos , Estresse Fisiológico/genética , Animais , Área Sob a Curva , Bovinos/fisiologia , Feminino , Estudo de Associação Genômica Ampla , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Estações do AnoRESUMO
The objective was to evaluate the impact of functional teat number on reproductive throughput in swine. Data included 735 multiparous Landraceâ ×â Large White F1 females. Sow underlined traits consisted of total teat number (TT), functional teat number (FT), nonfunctional teat number (NFT), and number of functional mammary glands (FMG). Weaning traits were calculated for both the biological and the nurse dam. For the biological dam, litter size at weaning (LSW) included a sow's biological piglets regardless of cross-fostering. For nurse dam, number weaned (NW) included the piglets a sow weaned. For the biological dam, piglet survival (PS) was calculated as litter size at weaning / (total number bornâ ×â 100). Linear regression estimates were calculated in RStudio v. 1.1.456 and variance components were estimated using GIBBS3F90. Average total number born, number born alive, TT, FT, NFT, and FMG were 14.22, 13.12, 14.43, 13.96, 0.42, and 10.7, respectively. An increase in one FT enhanced (Pâ <â 0.05) LSW by 0.32 piglets and NW by 0.33 piglets. Similarly, an increase in one FT improved (Pâ <â 0.05) PS by 1.63% and reduced (Pâ <â 0.05) preweaning mortality by 2.73%. However, an increase in one FT reduced (Pâ <â 0.05) average piglet weaning weight (WW) for biological and nurse dams by 35 and 94 g, respectively. Yet an increase in one FT enhanced (Pâ <â 0.05) litter weaning weight (LWW) for biological and nurse dams by 1.3 and 1.5 kg, respectively. Heritability estimates for TT, FT, NFT, FMG, WW, LWW, LSW, and PS were 0.25, 0.22, 0.53, 0.18, 0.21, 0.22, 0.16, and 0.18, respectively. Genetic correlation estimates between FT with TT, NFT, and FMG were 0.79, 0.09, and 0.28, respectively. Estimated genetic correlations between TT with WW, LWW, LSW, and PS were 0.37, 0.38, 0.11, and -0.19, respectively. Genetic correlation estimates between FT with WW, LWW, LSW, and PS were 0.44, 0.49, 0.39, and 0.35, respectively. Results suggest increasing functional teat number would enhance both piglet survival and reproductive throughput.
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BACKGROUND: There are many benefits to open datasets. However, privacy concerns have hampered the widespread creation of open health data. There is a dearth of documented methods and case studies for the creation of public-use health data. We describe a new methodology for creating a longitudinal public health dataset in the context of the Heritage Health Prize (HHP). The HHP is a global data mining competition to predict, by using claims data, the number of days patients will be hospitalized in a subsequent year. The winner will be the team or individual with the most accurate model past a threshold accuracy, and will receive a US $3 million cash prize. HHP began on April 4, 2011, and ends on April 3, 2013. OBJECTIVE: To de-identify the claims data used in the HHP competition and ensure that it meets the requirements in the US Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule. METHODS: We defined a threshold risk consistent with the HIPAA Privacy Rule Safe Harbor standard for disclosing the competition dataset. Three plausible re-identification attacks that can be executed on these data were identified. For each attack the re-identification probability was evaluated. If it was deemed too high then a new de-identification algorithm was applied to reduce the risk to an acceptable level. We performed an actual evaluation of re-identification risk using simulated attacks and matching experiments to confirm the results of the de-identification and to test sensitivity to assumptions. The main metric used to evaluate re-identification risk was the probability that a record in the HHP data can be re-identified given an attempted attack. RESULTS: An evaluation of the de-identified dataset estimated that the probability of re-identifying an individual was .0084, below the .05 probability threshold specified for the competition. The risk was robust to violations of our initial assumptions. CONCLUSIONS: It was possible to ensure that the probability of re-identification for a large longitudinal dataset was acceptably low when it was released for a global user community in support of an analytics competition. This is an example of, and methodology for, achieving open data principles for longitudinal health data.
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Sistemas Computadorizados de Registros Médicos , Sistemas de Identificação de Pacientes , Health Insurance Portability and Accountability Act , Estados UnidosRESUMO
The microbial composition resemblance among individuals in a group can be summarized in a square covariance matrix and fitted in linear models. We investigated eight approaches to create the matrix that quantified the resemblance between animals based on the gut microbiota composition. We aimed to compare the performance of different methods in estimating trait microbiability and predicting growth and body composition traits in three pig breeds. This study included 651 purebred boars from either breed: Duroc (n = 205), Landrace (n = 226), and Large White (n = 220). Growth and body composition traits, including body weight (BW), ultrasound backfat thickness (BF), ultrasound loin depth (LD), and ultrasound intramuscular fat (IMF) content, were measured on live animals at the market weight (156 ± 2.5 d of age). Rectal swabs were taken from each animal at 158 ± 4 d of age and subjected to 16S rRNA gene sequencing. Eight methods were used to create the microbial similarity matrices, including 4 kernel functions (Linear Kernel, LK; Polynomial Kernel, PK; Gaussian Kernel, GK; Arc-cosine Kernel with one hidden layer, AK1), 2 dissimilarity methods (Bray-Curtis, BC; Jaccard, JA), and 2 ordination methods (Metric Multidimensional Scaling, MDS; Detrended Correspondence analysis, DCA). Based on the matrix used, microbiability estimates ranged from 0.07 to 0.21 and 0.12 to 0.53 for Duroc, 0.03 to 0.21 and 0.05 to 0.44 for Landrace, and 0.02 to 0.24 and 0.05 to 0.52 for Large White pigs averaged over traits in the model with sire, pen, and microbiome, and model with the only microbiome, respectively. The GK, JA, BC, and AK1 obtained greater microbiability estimates than the remaining methods across traits and breeds. Predictions were made within each breed group using four-fold cross-validation based on the relatedness of sires in each breed group. The prediction accuracy ranged from 0.03 to 0.18 for BW, 0.08 to 0.31 for BF, 0.21 to 0.48 for LD, and 0.04 to 0.16 for IMF when averaged across breeds. The BC, MDS, LK, and JA achieved better accuracy than other methods in most predictions. Overall, the PK and DCA exhibited the worst performance compared to other microbiability estimation and prediction methods. The current study shows how alternative approaches summarized the resemblance of gut microbiota composition among animals and contributed this information to variance component estimation and phenotypic prediction in swine.
Gut microbiota has received significant research attention in farm animals because of its close relationship with host performance. We chose eight approaches to create a square covariance matrix that characterizes the relationship among animals based on their gut microbiota composition. Then, we fitted this information with linear models to evaluate the proportion of phenotypic variance explained by gut microbiota composition and predict host growth and body composition traits in three pig breeds. We found that different matrices had varying performance in predicting host phenotypes, but the results highly depended on the trait and breed considered in the prediction. Our findings highlight possible alternative approaches to incorporate gut microbiome data in regression models and emphasize the value of gut microbiome data in better understanding complex traits in pigs with diverse genetic backgrounds.
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Microbioma Gastrointestinal , Animais , Composição Corporal/genética , Masculino , Fenótipo , RNA Ribossômico 16S/genética , SuínosRESUMO
The purpose of this study was to investigate the use of feeding behavior in conjunction with gut microbiome sampled at two growth stages in predicting growth and body composition traits of finishing pigs. Six hundred and fifty-one purebred boars of three breeds: Duroc (DR), Landrace (LR), and Large White (LW), were studied. Feeding activities were recorded individually from 99 to 163 days of age. The 16S rRNA gene sequences were obtained from each pig at 123 ± 4 and 158 ± 4 days of age. When pigs reached market weight, body weight (BW), ultrasound backfat thickness (BF), ultrasound loin depth (LD), and ultrasound intramuscular fat (IMF) content were measured on live animals. Three models including feeding behavior (Model_FB), gut microbiota (Model_M), or both (Model_FB_M) as predictors, were investigated. Prediction accuracies were evaluated through cross-validation across genetic backgrounds using the leave-one-breed-out strategy and across rearing environments using the leave-one-room-out approach. The proportions of phenotypic variance of growth and body composition traits explained by feeding behavior ranged from 0.02 to 0.30, and from 0.20 to 0.52 when using gut microbiota composition. Overall prediction accuracy (averaged over traits and time points) of phenotypes was 0.24 and 0.33 for Model_FB, 0.27 and 0.19 for Model_M, and 0.40 and 0.35 for Model_FB_M for the across-breed and across-room scenarios, respectively. This study shows how feeding behavior and gut microbiota composition provide non-redundant information in predicting growth in swine.
Assuntos
Microbioma Gastrointestinal , Animais , Composição Corporal/genética , Comportamento Alimentar , Microbioma Gastrointestinal/genética , Masculino , Fenótipo , RNA Ribossômico 16S/genética , SuínosRESUMO
It is of interest to evaluate crossbred pigs for hot carcass weight (HCW) and birth weight (BW); however, obtaining a HCW record is dependent on livability (LIV) and retained tag (RT). The purpose of this study is to analyze how HCW evaluations are affected when herd removal and missing identification are included in the model and examine if accounting for the reasons for missing traits improves the accuracy of predicting breeding values. Pedigree information was available for 1,965,077 purebred and crossbred animals. Records for 503,716 commercial three-way crossbred terminal animals from 2014 to 2019 were provided by Smithfield Premium Genetics. Two pedigree-based models were compared; model 1 (M1) was a threshold-linear model with all four traits (BW, HCW, RT, and LIV), and model 2 (M2) was a linear model including only BW and HCW. The fixed effects used in the model were contemporary group, sex, age at harvest (for HCW only), and dam parity. The random effects included direct additive genetic and random litter effects. Accuracy, dispersion, bias, and Pearson correlations were estimated using the linear regression method. The heritabilities were 0.11, 0.07, 0.02, and 0.04 for BW, HCW, RT, and LIV, respectively, with standard errors less than 0.01. No difference was observed in heritabilities or accuracies for BW and HCW between M1 and M2. Accuracies were 0.33, 0.37, 0.19, and 0.23 for BW, HCW, RT, and LIV, respectively. The genetic correlation between BW and RT was 0.34 ± 0.03, and between BW and LIV was 0.56 ± 0.03. Similarly, the genetic correlation between HCW and RT was 0.26 ± 0.04, and between HCW and LIV was 0.09 ± 0.05, respectively. The positive and moderate genetic correlations between BW and other traits imply a heavier BW resulted in a higher probability of surviving to harvest. Genetic correlations between HCW and other traits were lower due to the large quantity of missing records. Despite the heritable and correlated aspects of RT and LIV, results imply no major differences between M1 and M2; hence, it is unnecessary to include these traits in classical models for BW and HCW.
Assuntos
Hibridização Genética , Modelos Genéticos , Animais , Peso ao Nascer , Peso Corporal , Feminino , Paridade , Linhagem , Fenótipo , Gravidez , Suínos/genéticaRESUMO
Genomic information has a limited dimensionality (number of independent chromosome segments [Me]) related to the effective population size. Under the additive model, the persistence of genomic accuracies over generations should be high when the nongenomic information (pedigree and phenotypes) is equivalent to Me animals with high accuracy. The objective of this study was to evaluate the decay in accuracy over time and to compare the magnitude of decay with varying quantities of data and with traits of low and moderate heritability. The dataset included 161,897 phenotypic records for a growth trait (GT) and 27,669 phenotypic records for a fitness trait (FT) related to prolificacy in a population with dimensionality around 5,000. The pedigree included 404,979 animals from 2008 to 2020, of which 55,118 were genotyped. Two single-trait models were used with all ancestral data and sliding subsets of 3-, 2-, and 1-generation intervals. Single-step genomic best linear unbiased prediction (ssGBLUP) was used to compute genomic estimated breeding values (GEBV). Estimated accuracies were calculated by the linear regression (LR) method. The validation population consisted of single generations succeeding the training population and continued forward for all generations available. The average accuracy for the first generation after training with all ancestral data was 0.69 and 0.46 for GT and FT, respectively. The average decay in accuracy from the first generation after training to generation 9 was -0.13 and -0.19 for GT and FT, respectively. The persistence of accuracy improves with more data. Old data have a limited impact on the predictions for young animals for a trait with a large amount of information but a bigger impact for a trait with less information.
Assuntos
Genoma , Modelos Genéticos , Animais , Genômica , Genótipo , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo Único , Responsabilidade Social , Suínos/genéticaRESUMO
Improving swine climatic resilience through genomic selection has the potential to minimize welfare issues and increase the industry profitability. The main objective of this study was to investigate the genetic and genomic determinism of tolerance to heat stress in four independent purebred populations of swine. Three female reproductive traits were investigated: total number of piglets born (TNB), number of piglets born alive (NBA) and average birth weight (ABW). More than 80,000 phenotypic and 12,000 genotyped individuals were included in this study. Genomic random-regression models were fitted regressing the phenotypes of interest on a set of 95 environmental covariates extracted from public weather station records. The models yielded estimates of (genomic) reactions norms for individual pigs, as indicator of heat tolerance. Heat tolerance is a heritable trait, although the heritabilities are larger under comfortable than heat-stress conditions (larger than 0.05 vs. 0.02 for TNB; 0.10 vs. 0.05 for NBA; larger than 0.20 vs. 0.10 for ABW). TNB showed the lowest genetic correlation (-38%) between divergent climatic conditions, being the trait with the strongest impact of genotype by environment interaction, while NBA and ABW showed values slightly negative or equal to zero reporting a milder impact of the genotype by environment interaction. After estimating genetic parameters, a genome-wide association study was performed based on the single-step GBLUP method. Heat tolerance was observed to be a highly polygenic trait. Multiple and non-overlapping genomic regions were identified for each trait based on the genomic breeding values for reproductive performance under comfortable or heat stress conditions. Relevant regions were found on chromosomes (SSC) 1, 3, 5, 6, 9, 11, and 12, although there were important regions across all autosomal chromosomes. The genomic region located on SSC9 appears to be of particular interest since it was identified for two traits (TNB and NBA) and in two independent populations. Heat tolerance based on reproductive performance indicators is a heritable trait and genetic progress for heat tolerance can be achieved through genetic or genomic selection. Various genomic regions and candidate genes with important biological functions were identified, which will be of great value for future functional genomic studies.