Jawline Aesthetic Definition: Enhancement with Masseteric Augmentation Using Ultrasound-Guided Fat Transfer.

Background: The rejuvenation and restoration of a well-defined jawline contour are crucial for enhancing facial aesthetics in both men and women. Within the jawline aesthetic unit (mandibular angle), the masseter muscle plays a significant role, as it is responsible for mandibular masticatory movements. We propose a new approach using ultrasound-guided intramuscular fat transfer to enhance the mandibular angle and jawline. Methods: The multicenter study included 20 patients from three countries (Peru, Brazil, and Mexico). After fat harvesting, the ultrasound-guided masseteric fat transfer was performed with a 1.5-mm Viaro cannula from an incision beneath the ear lobule. The fat was then injected intramuscularly into the masseter at each side of the mandibular angle. Results: Masseter ultrasound-guided fat transfer was performed on 10 men and 10 women between 2021 and 2022. The patients had a mean age of 34.4 ±â€…6.39 years and a mean body mass index of 22.39 ±â€…2.59 kg per m2. The mean injected volume was 5.83 mL and 5.58 mL on the right and left sides, respectively. Muscle thickness increased in patients immediately postsurgery, but decreased after 1 month. The muscle remained significantly thicker on each side than the presurgery measurements in patients regardless of gender (both P < 0.0001). Conclusions: Ultrasound-guided intramuscular fat transfer is a safe and reproducible technique for enhancing the jawline contour at the mandibular angle. We believe that it could be a more durable solution than other procedures, although further evaluation of long-term results is necessary.

A Systematic Approach for 3D Abdominal Lipodefinition.

BACKGROUND: 3D abdominal lipodefinition is a tool to eliminate localized fat and to enhance muscular definition. The aim of this article is to describe the standardization of defining the abdomen through 3D abdominal lipodefinition, taking into consideration the fat percentage to make the technique happen in a way the results turn out completely natural. METHODS: A retrospective study of patients who underwent 3D abdominal lipodefinition by one of the authors (R.V). Patient selection criteria, preoperative markings and technique according to fat percentage, postoperative care, outcomes and complications are described. RESULTS: A total of 285 patients underwent 3D abdominal lipodefinition. The average age was of 33 years (18-45 years). One hundred and fifty (52.63%) of the patients had a fat percentage between 25 and 30%, 92 (32.28%) of the patients had 21-24%, and 43 (15.09%) of the patients had a fat percentage lower than 20%. The average fat volume extracted was of 1600 mL with a minimum of 800 mL and a maximum of 2000 mL. The average surgery time was of 100 min (84-118 min). Twenty-seven (9.47%) complications were observed, 15 (5.26%) had seromas and 7 (2.46%) developed hyperpigmentation on the negative areas. Asymmetries were observed in three patients (1.05%). CONCLUSIONS: The standardization of the 3D abdominal lipodefinition technique is a systematic surgical approach associated to a classification dependent on the fat percentage of the patient and their physical build, that allows for results that are natural, according to each patient, reproducible and with a low complication index. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Applications of livestock monitoring devices and machine learning algorithms in animal production and reproduction: an overview.

Some sectors of animal production and reproduction have shown great technological advances due to the development of research areas such as Precision Livestock Farming (PLF). PLF is an innovative approach that allows animals to be monitored, through the adoption of cutting-edge technologies that continuously collect real-time data by combining the use of sensors with advanced algorithms to provide decision tools for farmers. Artificial Intelligence (AI) is a field that merges computer science and large datasets to create expert systems that are able to generate predictions and classifications similarly to human intelligence. In a simplified manner, Machine Learning (ML) is a branch of AI, and can be considered as a broader field that encompasses Deep Learning (DL, a Neural Network formed by at least three layers), generating a hierarchy of subsets formed by AI, ML and DL, respectively. Both ML and DL provide innovative methods for analyzing data, especially beneficial for large datasets commonly found in livestock-related activities. These approaches enable the extraction of valuable insights to address issues related to behavior, health, reproduction, production, and the environment, facilitating informed decision-making. In order to create the referred technologies, studies generally go through five steps involving data processing: acquisition, transferring, storage, analysis and delivery of results. Although the data collection and analysis steps are usually thoroughly reported by the scientific community, a good execution of each step is essential to achieve good and credible results, which impacts the degree of acceptance of the proposed technologies in real life practical circumstances. In this context, the present work aims to describe an overview of the current implementations of ML/DL in livestock reproduction and production, as well to identify potential challenges and critical points in each of the five steps mentioned, which can affect results and application of AI techniques by farmers in practical situations.

Exploratory lipidome and metabolome profiling contributes to understanding differences in high and normal ultimate pH beef.

The aim of this work was to compare the lipidome and metabolome profiling in the Longissimus thoracis muscle early and late postmortem from high and normal ultimate pH (pHu) beef. Lipid profiling discriminated between high and normal pHu beef based on fatty acid metabolism and mitochondrial beta-oxidation of long chain saturated fatty acids at 30 min postmortem, and phospholipid biosynthesis at 44 h postmortem. Metabolite profiling also discriminated between high and normal pHu beef, mainly through glutathione, purine, arginine and proline, and glycine, serine and threonine metabolisms at 30 min postmortem, and glycolysis, TCA cycle, glutathione, tyrosine, and pyruvate metabolisms at 44 h postmortem. Lipid and metabolite profiles showed reduced glycolysis and increased use of alternative energy metabolic processes that were central to differentiating high and normal pHu beef. Phospholipid biosynthesis modification suggested high pHu beef experienced greater oxidative stress.

A Random Forest-Based Genome-Wide Scan Reveals Fertility-Related Candidate Genes and Potential Inter-Chromosomal Epistatic Regions Associated With Age at First Calving in Nellore Cattle.

This study aimed to perform a genome-wide association analysis (GWAS) using the Random Forest (RF) approach for scanning candidate genes for age at first calving (AFC) in Nellore cattle. Additionally, potential epistatic effects were investigated using linear mixed models with pairwise interactions between all markers with high importance scores within the tree ensemble non-linear structure. Data from Nellore cattle were used, including records of animals born between 1984 and 2015 and raised in commercial herds located in different regions of Brazil. The estimated breeding values (EBV) were computed and used as the response variable in the genomic analyses. After quality control, the remaining number of animals and SNPs considered were 3,174 and 360,130, respectively. Five independent RF analyses were carried out, considering different initialization seeds. The importance score of each SNP was averaged across the independent RF analyses to rank the markers according to their predictive relevance. A total of 117 SNPs associated with AFC were identified, which spanned 10 autosomes (2, 3, 5, 10, 11, 17, 18, 21, 24, and 25). In total, 23 non-overlapping genomic regions embedded 262 candidate genes for AFC. Enrichment analysis and previous evidence in the literature revealed that many candidate genes annotated close to the lead SNPs have key roles in fertility, including embryo pre-implantation and development, embryonic viability, male germinal cell maturation, and pheromone recognition. Furthermore, some genomic regions previously associated with fertility and growth traits in Nellore cattle were also detected in the present study, reinforcing the effectiveness of RF for pre-screening candidate regions associated with complex traits. Complementary analyses revealed that many SNPs top-ranked in the RF-based GWAS did not present a strong marginal linear effect but are potentially involved in epistatic hotspots between genomic regions in different autosomes, remarkably in the BTAs 3, 5, 11, and 21. The reported results are expected to enhance the understanding of genetic mechanisms involved in the biological regulation of AFC in this cattle breed.

Practical implications of using non-relational databases to store large genomic data files and novel phenotypes.

The objective of our study was to provide practical directions on the storage of genomic information and novel phenotypes (treated here as unstructured data) using a non-relational database. The MongoDB technology was assessed for this purpose, enabling frequent data transactions involving numerous individuals under genetic evaluation. Our study investigated different genomic (Illumina Final Report, PLINK, 0125, FASTQ, and VCF formats) and phenotypic (including media files) information, using both real and simulated datasets. Advantages of our centralized database concept include the sublinear running time for queries after increasing the number of samples/markers exponentially, in addition to the comprehensive management of distinct data formats while searching for specific genomic regions. A comparison of our non-relational and generic solution, with an existing relational approach (developed for tabular data types using 2 bits to store genotypes), showed reduced importing time to handle 50M SNPs (PLINK format) achieved by the relational schema. Our experimental results also reinforce that data conversion is a costly step required to manage genomic data into both relational and non-relational database systems, and therefore, must be carefully treated for large applications.

Reduced rank analysis of morphometric and functional traits in Campolina horses.

Multitrait models can increase the accuracy of breeding value prediction and reduce bias due to selection by using traits measured before and after it has occurred. However, as the number of traits grows, a similar trend is expected for the number of parameters to be estimated, which directly affects the computing power and the amount of data required. The aim of the present study was to apply reduced rank (principal components model-PCM) and factor analytical models (FAM), to estimate (co)variance components for nineteen traits, jointly evaluated in a single analysis in Campolina horses. A total of 18 morphometric traits (MT) and one gait visual score (GtS), along with genealogical records of 48,806 horses, were analysed under a restricted maximum likelihood framework. Nine PCM, nine FAM and one standard multitrait model (MTM) were fitted to the data and compared to find the best suitable model. Based on Bayesian information criterion, the best model was the FAM option, considering five common factors (FAM5). After performing an intraclass analysis, none of MT were genetically negatively correlated, whereas GtS was negatively related to all MT, except for the genetic correlations among GtS and BLL, and between GtS and BLLBL (0.01 and 0.10 respectively). From all MT, two traits were derived computing ratios involving other traits, those had negative correlations with others MT, but all favourable for selection. Similar patterns were observed between the genetic parameters obtained from MTM and FAM5 respectively. The heritability estimates ranged from 0.09 (head width) to 0.47 (height at withers). Our results indicated that FAM was efficient to reduce the multitrait analysis dimensionality, and therefore, traits can be combined based on the first three eigenvectors from the additive genetic (co)variance matrix. In addition, there was sufficient genetic variation for selection, benefiting its potential implementation in a breeding program.

Detection and Visualization of Heterozygosity-Rich Regions and Runs of Homozygosity in Worldwide Sheep Populations.

In this study, we chose 17 worldwide sheep populations of eight breeds, which were intensively selected for different purposes (meat, milk, or wool), or locally-adapted breeds, in order to identify and characterize factors impacting the detection of runs of homozygosity (ROH) and heterozygosity-rich regions (HRRs) in sheep. We also applied a business intelligence (BI) tool to integrate and visualize outputs from complementary analyses. We observed a prevalence of short ROH, and a clear distinction between the ROH profiles across populations. The visualizations showed a fragmentation of medium and long ROH segments. Furthermore, we tested different scenarios for the detection of HRR and evaluated the impact of the detection parameters used. Our findings suggest that HRRs are small and frequent in the sheep genome; however, further studies with higher density SNP chips and different detection methods are suggested for future research. We also defined ROH and HRR islands and identified common regions across the populations, where genes related to a variety of traits were reported, such as body size, muscle development, and brain functions. These results indicate that such regions are associated with many traits, and thus were under selective pressure in sheep breeds raised for different purposes. Interestingly, many candidate genes detected within the HRR islands were associated with brain integrity. We also observed a strong association of high linkage disequilibrium pattern with ROH compared with HRR, despite the fact that many regions in linkage disequilibrium were not located in ROH regions.

Effect of subdoses of sugarcane ripeners on lettuce physiology in a drift scenario.

In order to understand the physiological effects of ripeners in sensitive crops, the objective of this work was to evaluate the effect of subdoses of the ripeners glyphosate, trinexapac-ethyl and sulfometuron methyl commonly used in sugarcane, in the growth of lettuce cultivar 'Lucy Brown' and 'Vanda'. To address the effects of the products in the lettuce physiology, analyses of fresh weight, dry weight, number of leaves, chlorophyll content, quantum efficiency of photosystem II, lipid peroxidation (MDA), hydrogen peroxide (H2O2), glutathione reductase (GR), guaiacol peroxidase (GPOX) were performed. We observed that among the products tested, glyphosate had minor impact on plant growth, compared to trinexapac-ethyl and sulfometuron methyl. All products induced a decrease in chlorophyll content for both cultivars. Chlorophyll A fluorescence suffered a major reduction with trinexapac-ethyl and sulfometuron methyl in 'Vanda' and no differences were observed for 'Lucy Brown'. MDA content and enzyme quantification varied by cultivar and the sugarcane ripener tested. By disturbing chlorophyll content and quantum efficiency of photosystem II, through these sugarcane ripeners did not have direct mode of action affecting photosystem II, they can cause some level of damage and activate different mechanisms and at different times, in response to stress. In this sense, it is possible to observe that reduced doses of glyphosate, trinexapac ethyl, and sulfometuron methyl affect the development of lettuce at different levels and trigger an oxidative response that was cultivar dependent.

Imputation accuracy to whole-genome sequence in Nellore cattle.

BACKGROUND: A cost-effective strategy to explore the complete DNA sequence in animals for genetic evaluation purposes is to sequence key ancestors of a population, followed by imputation mechanisms to infer marker genotypes that were not originally reported in a target population of animals genotyped with single nucleotide polymorphism (SNP) panels. The feasibility of this process relies on the accuracy of the genotype imputation in that population, particularly for potential causal mutations which may be at low frequency and either within genes or regulatory regions. The objective of the present study was to investigate the imputation accuracy to the sequence level in a Nellore beef cattle population, including that for variants in annotation classes which are more likely to be functional. METHODS: Information of 151 key sequenced Nellore sires were used to assess the imputation accuracy from bovine HD BeadChip SNP (~ 777 k) to whole-genome sequence. The choice of the sires aimed at optimizing the imputation accuracy of a genotypic database, comprised of about 10,000 genotyped Nellore animals. Genotype imputation was performed using two computational approaches: FImpute3 and Minimac4 (after using Eagle for phasing). The accuracy of the imputation was evaluated using a fivefold cross-validation scheme and measured by the squared correlation between observed and imputed genotypes, calculated by individual and by SNP. SNPs were classified into a range of annotations, and the accuracy of imputation within each annotation classification was also evaluated. RESULTS: High average imputation accuracies per animal were achieved using both FImpute3 (0.94) and Minimac4 (0.95). On average, common variants (minor allele frequency (MAF) > 0.03) were more accurately imputed by Minimac4 and low-frequency variants (MAF ≤ 0.03) were more accurately imputed by FImpute3. The inherent Minimac4 Rsq imputation quality statistic appears to be a good indicator of the empirical Minimac4 imputation accuracy. Both software provided high average SNP-wise imputation accuracy for all classes of biological annotations. CONCLUSIONS: Our results indicate that imputation to whole-genome sequence is feasible in Nellore beef cattle since high imputation accuracies per individual are expected. SNP-wise imputation accuracy is software-dependent, especially for rare variants. The accuracy of imputation appears to be relatively independent of annotation classification.

Publisher Correction: Uncovering Sub-Structure and Genomic Profiles in Across-Countries Subpopulations of Angus Cattle.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Whole-genome sequencing provides new insights into genetic mechanisms of tropical adaptation in Nellore (Bos primigenius indicus).

Most of the knowledge about genetic variants at the sequence level in cattle is for Bos primigenius taurus populations. Here, we presented a complete genomic characterization of 52 Nellore (Bos primigenius indicus) bulls, revealing specific zebu DNA variants with putative impact in tropical adaptation and productive traits. Single nucleotide polymorphisms (SNPs) and insertion/deletion (INDELs) mutations were identified using the newest bovine reference genome ARS_UCD1.2, and variant functional consequences were predicted using the Ensembl VEP software. A total of 35,753,707 SNPs and 4,492,636 INDELs were detected and annotated to their functional effects. We identified 400 genes that comprised both, a SNP and an INDEL, of high functional impact on proteins (i.e. variants that cause protein truncation, loss of function or triggering nonsense-mediated decay). Among these, we highlight the following genes: BoLA, associated with cattle immune response to infections and reproduction aspects; HSPA8, DNAJC27, and DNAJC28, involved with thermoregulatory protective mechanisms in mammals; and many olfactory signaling pathway related genes that are important genetic factors in the evolution of mammalian species. All these functional aspects are directly related to cattle adaptability to tropical environments.

Uncovering Sub-Structure and Genomic Profiles in Across-Countries Subpopulations of Angus Cattle.

Highlighting genomic profiles for geographically distinct subpopulations of the same breed may provide insights into adaptation mechanisms to different environments, reveal genomic regions divergently selected, and offer initial guidance to joint genomic analysis. Here, we characterized similarities and differences between the genomic patterns of Angus subpopulations, born and raised in Canada (N = 382) and Brazil (N = 566). Furthermore, we systematically scanned for selection signatures based on the detection of autozygosity islands common between the two subpopulations, and signals of divergent selection, via FST and varLD tests. The principal component analysis revealed a sub-structure with a close connection between the two subpopulations. The averages of genomic relationships, inbreeding coefficients, and linkage disequilibrium at varying genomic distances were rather similar across them, suggesting non-accentuated differences in overall genomic diversity. Autozygosity islands revealed selection signatures common to both subpopulations at chromosomes 13 (63.77-65.25 Mb) and 14 (22.81-23.57 Mb), which are notably known regions affecting growth traits. Nevertheless, further autozygosity islands along with FST and varLD tests unravel particular sites with accentuated population subdivision at BTAs 7 and 18 overlapping with known QTL and candidate genes of reproductive performance, thermoregulation, and resistance to infectious diseases. Our findings indicate overall genomic similarity between Angus subpopulations, with noticeable signals of divergent selection in genomic regions associated with the adaptation in different environments.

Osteoblast response to zirconia modified-ORMOSILs.

In this study, an in vitro evaluation of the human osteoblasts response to Organically Modified Silicate (ORMOSIL) biomaterials was conducted. These materials were synthetized by sol-gel process being modified with zirconia (ZrO2) and/or Ca2+. The materials were immersed into phosphate buffer solution (PBS) in order to test precipitation of mimetic apatite-like on their surfaces. ORMOSILs were characterized by SEM, FT-IR and X-RD analysis. The response of osteoblast to ORMOSILs was analyzed as a measure of cell adhesion, proliferation and differentiation. The results showed that the addition of Ca2+ ions modifies the surface morphology of ORMOSILs by forming precipitates of mimetic apatite-like with cauliflower and scales morphologies. On the other hand, biological results suggest that the incorporation of zirconia to ORMOSILs increases their ability to support cell adhesion and proliferation. However, the inclusion of both zirconia and Ca2+ in the ORMOSILs decreases their biological compatibility by showing less cell proliferation and lower osteonectin expression, a protein related to osteoblasts. The unfavorable effect of Ca2+ on cell proliferation and cell viability could be due to its ability to induce the formation of mimetic apatite-like with incompatible morphology. The analysis of other proteins related to bone formation on ORMOSIL-Zr and ORMOSIL-Zr-Ca surfaces demonstrated clear expression of osteopontin and osteocalcin in cells growth. In the case of ORMOSIL-Zr, the expression of osteonectin occurred at early stages while the expression of osteopontin and osteocalcin begun at later stages, indicating a switch from an early to a mature stage being stimulated by the biomaterial. Together, these results highlight the important role of zirconia and Ca2+ ions in the composition of materials regulating their biocompatibility when used as scaffolds in bone regeneration.

Genetic analysis of in-vitro embryo production traits in Dairy Gir cattle.

The potential of dams as oocyte donors can be a selection criterion for animal breeding programs, but also an involuntary driver of the process. In both cases, it is important to determine genetic components influencing the outcome of in vitro embryo production (IVEP). The objective of the present study was to perform a detailed genetic analysis for in vitro embryo production traits in Dairy Gir cows. A dataset containing 11,450 records of ovum pick-up (OPU) and in vitro fertilization (IVF) procedures from 2684 Dairy Gir donors was evaluated. Analyzed traits were number (NOV) and percentage (POV) of viable oocytes; number (NGI) and percentage (PGI) of grade I oocytes; number (NEMB) and percentage (PEMB) of viable embryos. All analyzes were performed using animal models by a Bayesian framework. Heritability estimates varied from 0.16 to 0.32 for count traits and from 0.01 to 0.06 for percentage traits. The proportion of the total variation represented by the additive genetic effect of sire (semen used in IVF) for NEMB and PEMB was 7% and 5% respectively. Associations between estimated breeding values from progeny tested bulls for IVEP traits, milk production, age at first calving and conformation traits were mainly low or close to zero. Results indicate that selection for IVEP traits is possible in Dairy Gir cattle and would not impair genetic progress for traits already considered as selection criteria. The NOV seems to be a promising target trait. However, a selection index could help to avoid the use of sires with negative genetic merit for percentage traits, minimizing possible deterioration in the long term.

Accounting for population structure in selective cow genotyping strategies.

The objective of the present study was to investigate the impact of considering population structure in cow genotyping strategies over the accuracy and bias of genomic predictions. A small dairy cattle population was simulated to address these objectives. Based on four main traditional designs (random, top-yield, extreme-yield and top-accuracy cows), different numbers (1,000; 2,000 and 5,000) of cows were sampled and included in the reference population. Traditional designs were replicated considering or not population structure and compared among and with a reference population containing only bulls. The inclusion of cows increased accuracy in all scenarios compared with using only bulls. Scenarios accounting for population structure when choosing cows to the reference population slightly outperformed their traditional versions by yielding higher accuracy and lower bias in genomic predictions. Building a cow-based reference population from groups of related individuals considering the frequency of individuals from those same groups in the validation population yielded promising results with applications on selection for expensive- or difficult-to-measure traits. Methods here presented may be easily implemented in both new or already established breeding programs, as they improved prediction and reduced bias in genomic evaluations while demanding no additional costs.

Impacts of warming and water deficit on antioxidant responses in Panicum maximum Jacq.

Agricultural activities are affected by many biotic and abiotic stresses associated with global climate change. Predicting the response of plants to abiotic stress under future climate scenarios requires an understanding of plant biochemical performance in simulated stress conditions. In this study, the antioxidant response of Panicum maximum Jacq. cv. Mombaça exposed to warming (+2°C above ambient temperature) (eT), water deficit (wS) and the combination eT + wS was analysed under field conditions using a temperature free-air-controlled enhancement facility. Warming was applied during the entire growth period. Data were collected at 13, 19 and 37 days after the start of the water deficit treatment (DAT) and at two sampling times (6:00 and 12:00 h). A significant decrease in chlorophyll was observed under the wS treatment, but an increment in total chlorophyll was observed in eT + wS, particularly at 19 DAT. Significant increase in H2 O2 content, malondialdehyde and protein oxidation was observed in the wS treatment at noon of the third sampling. In the combined wS + eT stress treatment, the activity of the enzymatic antioxidant system increased, particularly of superoxide dismutase (SOD; EC 1.15.1.1) and ascorbate peroxidase (APX; EC 1.11.1.11). The chlorophyll fluorescence images showed that the photochemical performance was not significantly affected by the treatments. In conclusion, under simulated future warming and water stress conditions, the photosystem II (PSII) activity of P. maximum acclimated to moderate warming and a water-stressed environment associated with a relatively favourable antioxidant response, particularly in the activity of APX and SOD.

Fine mapping of genomic regions associated with female fertility in Nellore beef cattle based on sequence variants from segregating sires.

BACKGROUND: Impaired fertility in cattle limits the efficiency of livestock production systems. Unraveling the genetic architecture of fertility traits would facilitate their improvement by selection. In this study, we characterized SNP chip haplotypes at QTL blocks then used whole-genome sequencing to fine map genomic regions associated with reproduction in a population of Nellore (Bos indicus) heifers. METHODS: The dataset comprised of 1337 heifers genotyped using a GeneSeek® Genomic Profiler panel (74677 SNPs), representing the daughters from 78 sires. After performing marker quality control, 64800 SNPs were retained. Haplotypes carried by each sire at six previously identified QTL on BTAs 5, 14 and 18 for heifer pregnancy and BTAs 8, 11 and 22 for antral follicle count were constructed using findhap software. The significance of the contrasts between the effects of every two paternally-inherited haplotype alleles were used to identify sires that were heterozygous at each QTL. Whole-genome sequencing data localized to the haplotypes from six sires and 20 other ancestors were used to identify sequence variants that were concordant with the haplotype contrasts. Enrichment analyses were applied to these variants using KEGG and MeSH libraries. RESULTS: A total of six (BTA 5), six (BTA 14) and five (BTA 18) sires were heterozygous for heifer pregnancy QTL whereas six (BTA 8), fourteen (BTA 11), and five (BTA 22) sires were heterozygous for number of antral follicles' QTL. Due to inadequate representation of many haplotype alleles in the sequenced animals, fine mapping analysis could only be reliably performed for the QTL on BTA 5 and 14, which had 641 and 3733 concordant candidate sequence variants, respectively. The KEGG "Circadian rhythm" and "Neurotrophin signaling pathway" were significantly associated with the genes in the QTL on BTA 5 whereas 32 MeSH terms were associated with the QTL on BTA 14. Among the concordant sequence variants, 0.2% and 0.3% were classified as missense variants for BTAs 5 and 14, respectively, highlighting the genes MTERF2, RTMB, ENSBTAG00000037306 (miRNA), ENSBTAG00000040351, PRKDC, and RGS20. The potential causal mutations found in the present study were associated with biological processes such as oocyte maturation, embryo development, placenta development and response to reproductive hormones. CONCLUSIONS: The identification of heterozygous sires by positionally phasing SNP chip data and contrasting haplotype effects for previously detected QTL can be used for fine mapping to identify potential causal mutations and candidate genes. Genomic variants on genes MTERF2, RTBC, miRNA ENSBTAG00000037306, ENSBTAG00000040351, PRKDC, and RGS20, which are known to have influence on reproductive biological processes, were detected.