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1.
Cureus ; 16(2): e54975, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38544626

RESUMO

A direct sliding inguinal hernia descends through the superficial inguinal ring and encroaches on nearby organ structures, such as the bladder. This type of hernia is rare with a 2-5% incidence and occurs due to a weakness within the lower abdominal wall, usually associated with advancing age, that permits the distal colon to descend into the inguinal canal. Direct sliding inguinal hernias are a rare subset of inguinal hernias that require meticulous dissection due to their incorporation of nearby organs such as the bladder or colon. Few cases report repair of these hernias laparoscopically; however, the use of a hybrid laparoscopic/open approach has not been extensively documented and it may be beneficial to explore the use of this approach in inguinal hernia repair.  We present a case of a robotic-assisted minimally invasive repair of a direct sliding inguinal hernia in an 85-year-old male. He initially presented to the emergency department with left-sided groin pain and imaging revealed he had a direct sliding inguinal hernia that incorporated the bladder wall. He was admitted to surgery for a robotic-assisted minimally invasive inguinal hernia repair with mesh. During the surgery, after seeing the extent at which the hernia sac incorporated the bladder wall, the procedure was converted to an open approach to perform the remainder of the reduction; however the robot was reintroduced for mesh placement. Post-operatively, the patient experienced mild incisional abdominal pain with return of bowel function on day four and was discharged that same day.

2.
Sci Rep ; 13(1): 14915, 2023 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-37689764

RESUMO

Transparent wood (TW) has garnered significant global attention due to its unique properties. In this study, TW composites were fabricated using two timber species of different density classes: Ailanthus triphysa (common name: Ailanthus wood) and Hevea brasiliensis (common name: Rubberwood). Sodium hydroxide (NaOH) and Hydrogen peroxide-based alkali method was used to modify the lignin in these veneer samples, producing a white cellulose template with a fully intact hierarchical cell structure. Subsequently, a cost-effective thermosetting unsaturated polyester resin (UPR) was infiltrated into the redesigned framework and polymerized to create rigid nanostructured transparent composites. High optical haze (of 94% and 89%) and favourable light transmittance of 59 and 55 percent were exhibited by the UPR-TW composites made from rubberwood and ailanthus wood, respectively. TW was characterised using Scanning electron microscopy and Fourier-transform infrared spectroscopy. The mechanical properties of TW were measured and compared with those of natural wood and pure-polymer. Furthermore, the anisotropic light diffusion behaviour displayed by TW in accordance with the fibre orientation indicates the utility of material as a potential light shaping device. Therefore, a cost-effective and commercially viable strategy to fabricate multipurpose TW composites using a combination of lesser-known timber species (LKTS) and UPR resin was successfully demonstrated.

3.
Environ Res ; 236(Pt 1): 116655, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37500043

RESUMO

The impact of biosynthesized zirconium nanoparticles originated from biological waste, blended in diesel fuel processed through bio-refining strategy and its combustion, emissions, and overall diesel engine performance towards safety has been examined. Different weight fractions of zirconia nanoparticles were combined with crude diesel at 10, 20, and 30 mg/L values. According to the engine tests, Zirconia (20 nm) added to pure diesel at a concentration of 30 parts per million incremented thermal efficiencies by 4.9% compared to regular diesel fuel. The average reduction in specific fuel consumption for clean diesel fuel when the engine was operating at full power was 2.9%, 3.9%, and 4.9%. Diesel smoke, hydrocarbon, CO, and NOx emissions were reduced by 13%, 20%, 25%, and 29%, respectively, when nano additives were used at a concentration of 30 ppm.Nanoparticles enhance fuel stability, overcome detonation difficulties, and avoid fouling spark plugs. The pressure within cylinder, the temperature, and the rate at which heat is released was improved when alumina nanoparticles were appended to diesel fuel. However, both the length of the combustion and further delay in ignition were cut down. The ideal concentration of zirconia nanoparticles for improving combustion, efficiency, and emissions along with safety attainment in an internal combustion engine is recorded at 30 ppm.

4.
PLoS One ; 18(7): e0289030, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37486915

RESUMO

With the growing interest in using phages to combat antimicrobial resistance, computational methods for predicting phage-host interactions have been explored to help shortlist candidate phages. Most existing models consider entire proteomes and rely on manual feature engineering, which poses difficulty in selecting the most informative sequence properties to serve as input to the model. In this paper, we framed phage-host interaction prediction as a multiclass classification problem that takes as input the embeddings of a phage's receptor-binding proteins, which are known to be the key machinery for host recognition, and predicts the host genus. We explored different protein language models to automatically encode these protein sequences into dense embeddings without the need for additional alignment or structural information. We show that the use of embeddings of receptor-binding proteins presents improvements over handcrafted genomic and protein sequence features. The highest performance was obtained using the transformer-based protein language model ProtT5, resulting in a 3% to 4% increase in weighted F1 and recall scores across different prediction confidence thresholds, compared to using selected handcrafted sequence features.


Assuntos
Bacteriófagos , Proteoma , Sequência de Aminoácidos , Limiar Diferencial , Rememoração Mental
5.
Chemosphere ; 331: 138680, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37119925

RESUMO

The worldwide trend in energy production is moving toward circular economy systems and sustainable availability of sources. Some advanced methods support the economic development of energy production by the utilization of waste biomass, while limiting ecological effects. The use of agro waste biomass is viewed as a major alternative energy source that expressively lowers greenhouse gas emissions. Agricultural residues produced as wastes after each step of agricultural production are used as sustainable biomass assets for bioenergy production. Nevertheless, agro waste biomass needs to go through a few cyclic changes, among which biomass pre-treatment contributes to the removal of lignin and has a significant role in the efficiency and yield of bioenergy production. As a result of rapid innovation in the utilization of agro waste for biomass-derived bioenergy, a comprehensive overview of the thrilling highlights and necessary advancements, in addition to a detailed analysis of feedstock, characterization, bioconversion, and contemporary pre-treatment procedures, appear to be vital. To this end, the current status in the generation of bioenergy from agro biomass through various pre-treatment procedures was examined in this study, along with presenting relevant challenges and a perspective for future investigations.


Assuntos
Agricultura , Fontes Geradoras de Energia , Biomassa , Lignina , Desenvolvimento Econômico , Biocombustíveis
6.
Sci Rep ; 13(1): 4798, 2023 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-36959305

RESUMO

The purpose of this study is to conduct an experimental assessment of the impact of RCCI (reactivity regulated compression ignition) on the performance, emissions, and combustion of a CRDI engine. A fuel mix (20% biodiesel, 80% diesel, and a NaOH catalyst) is generated. The produced combination is evaluated for attributes using standards established by the American Society for Testing and Materials (ASTM). The engine research included three distinct kinds of injections: 10% Pen RCCI, 20% Pen RCCI, and 30% Pen RCCI. Increasing the injection pressure increases the brake thermal efficiency, often known as BTE. NOx emissions increased as a consequence of higher injection pressures and improved combustion. However, when the injection rate is increased, the Specific Fuel Consumption (SFC) falls. The CO2 and hydrocarbon emissions, as well as the smoke opacity values, increased as the charge increased. The resultant mixture may be utilized in a CI engine with pre-mixed ignition to improve overall engine performance as well as combustion characteristics.

7.
Phys Rev Lett ; 130(2): 029901, 2023 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-36706422

RESUMO

This corrects the article DOI: 10.1103/PhysRevLett.128.033401.

8.
Sensors (Basel) ; 22(16)2022 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-36016078

RESUMO

Addressing the recent trend of the massive demand for resources and ubiquitous use for all citizens has led to the conceptualization of technologies such as the Internet of Things (IoT) and smart cities. Ubiquitous IoT connectivity can be achieved to serve both urban and underserved remote areas such as rural communities by deploying 5G mobile networks with Low Power Wide Area Network (LPWAN). The current architectures will not offer flexible connectivity to many IoT applications due to high service demand, data exchange, emerging technologies, and security challenges. Hence, this paper explores various architectures that consider a hybrid 5G-LPWAN-IoT and Smart Cities. This includes security challenges as well as endogenous security and solutions in 5G and LPWAN-IoT. The slicing of virtual networks using software-defined network (SDN)/network function virtualization (NFV) based on the different quality of service (QoS) to satisfy different services and quality of experience (QoE) is presented. Also, a strategy that considers the implementation of 5G jointly with Weightless-N (TVWS) technologies to reduce the cell edge interference is considered. Discussions on the need for ubiquity connectivity leveraging 5G and LPWAN-IoT are presented. In addition, future research directions are presented, including a unified 5G network and LPWAN-IoT architecture that will holistically support integration with emerging technologies and endogenous security for improved/secured smart cities and remote areas IoT applications. Finally, the use of LPWAN jointly with low earth orbit (LEO) satellites for ubiquitous IoT connectivity is advocated in this paper.


Assuntos
Internet das Coisas , Cidades , Confidencialidade
9.
Neuropathol Appl Neurobiol ; 48(4): e12800, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35156715

RESUMO

AIMS: An obstacle to developing new treatment strategies for Alzheimer's disease (AD) has been the inadequate translation of findings in current AD transgenic rodent models to the prediction of clinical outcomes. By contrast, nonhuman primates (NHPs) share a close neurobiology with humans in virtually all aspects relevant to developing a translational AD model. The present investigation used African green monkeys (AGMs) to refine an inducible NHP model of AD based on the administration of amyloid-beta oligomers (AßOs), a key upstream initiator of AD pathology. METHODS: AßOs or vehicle were repeatedly delivered over 4 weeks to age-matched young adult AGMs by intracerebroventricular (ICV) or intrathecal (IT) injections. Induction of AD-like pathology was assessed in subregions of the medial temporal lobe (MTL) by quantitative immunohistochemistry (IHC) using the AT8 antibody to detect hyperphosphorylated tau. Hippocampal volume was measured by magnetic resonance imaging (MRI) scans prior to, and after, intrathecal injections. RESULTS: IT administration of AßOs in young adult AGMs revealed an elevation of tau phosphorylation in the MTL cortical memory circuit compared with controls. The largest increases were detected in the entorhinal cortex that persisted for at least 12 weeks after dosing. MRI scans showed a reduction in hippocampal volume following AßO injections. CONCLUSIONS: Repeated IT delivery of AßOs in young adult AGMs led to an accelerated AD-like neuropathology in MTL, similar to human AD, supporting the value of this translational model to de-risk the clinical trial of diagnostic and therapeutic strategies.


Assuntos
Doença de Alzheimer , Doença de Alzheimer/patologia , Peptídeos beta-Amiloides/metabolismo , Animais , Chlorocebus aethiops , Fosforilação , Primatas/metabolismo , Lobo Temporal/patologia , Proteínas tau/metabolismo
10.
Phys Rev Lett ; 128(3): 033401, 2022 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-35119879

RESUMO

We present experimental final-state distributions for Mg atoms formed in Mg^{+}+D^{-} mutual neutralization reactions at center-of-mass collision energies of 59±12 meV by using the merged-beams method. Comparisons with available full-quantum results reveal large discrepancies and a previously underestimated total rate coefficient by up to a factor of 2 in the 0-1 eV (<10^{4} K) regime. Asymptotic model calculations are shown to describe the process much better and we recommend applying this method to more complex iron group systems; data that is of urgent need in stellar spectral modeling.

11.
BMC Genomics ; 23(1): 97, 2022 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-35120462

RESUMO

BACKGROUND: RNA-seq is being increasingly adopted for gene expression studies in a panoply of non-model organisms, with applications spanning the fields of agriculture, aquaculture, ecology, and environment. For organisms that lack a well-annotated reference genome or transcriptome, a conventional RNA-seq data analysis workflow requires constructing a de-novo transcriptome assembly and annotating it against a high-confidence protein database. The assembly serves as a reference for read mapping, and the annotation is necessary for functional analysis of genes found to be differentially expressed. However, assembly is computationally expensive. It is also prone to errors that impact expression analysis, especially since sequencing depth is typically much lower for expression studies than for transcript discovery. RESULTS: We propose a shortcut, in which we obtain counts for differential expression analysis by directly aligning RNA-seq reads to the high-confidence proteome that would have been otherwise used for annotation. By avoiding assembly, we drastically cut down computational costs - the running time on a typical dataset improves from the order of tens of hours to under half an hour, and the memory requirement is reduced from the order of tens of Gbytes to tens of Mbytes. We show through experiments on simulated and real data that our pipeline not only reduces computational costs, but has higher sensitivity and precision than a typical assembly-based pipeline. A Snakemake implementation of our workflow is available at: https://bitbucket.org/project_samar/samar . CONCLUSIONS: The flip side of RNA-seq becoming accessible to even modestly resourced labs has been that the time, labor, and infrastructure cost of bioinformatics analysis has become a bottleneck. Assembly is one such resource-hungry process, and we show here that it can be avoided for quick and easy, yet more sensitive and precise, differential gene expression analysis in non-model organisms.


Assuntos
Perfilação da Expressão Gênica , Transcriptoma , DNA , Sequenciamento de Nucleotídeos em Larga Escala , Anotação de Sequência Molecular , RNA-Seq , Análise de Sequência de RNA
12.
BMC Genomics ; 22(1): 580, 2021 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-34325654

RESUMO

BACKGROUND: The fishery and aquaculture of the widely distributed mangrove crab Scylla serrata is a steadily growing, high-value, global industry. Climate change poses a risk to this industry as temperature elevations are expected to threaten the mangrove crab habitat and the supply of mangrove crab juveniles from the wild. It is therefore important to understand the genomic and molecular basis of how mangrove crab populations from sites with different climate profiles respond to heat stress. Towards this, we performed RNA-seq on the gill tissue of S. serrata individuals sampled from 3 sites (Cagayan, Bicol, and Bataan) in the Philippines, under normal and heat-stressed conditions. To compare the transcriptome expression profiles, we designed a 2-factor generalized linear model containing interaction terms, which allowed us to simultaneously analyze within-site response to heat-stress and across-site differences in the response. RESULTS: We present the first ever transcriptome assembly of S. serrata obtained from a data set containing 66 Gbases of cleaned RNA-seq reads. With lowly-expressed and short contigs excluded, the assembly contains roughly 17,000 genes with an N50 length of 2,366 bp. Our assembly contains many almost full-length transcripts - 5229 shrimp and 3049 fruit fly proteins have alignments that cover >80% of their sequence lengths to a contig. Differential expression analysis found population-specific differences in heat-stress response. Within-site analysis of heat-stress response showed 177, 755, and 221 differentially expressed (DE) genes in the Cagayan, Bataan, and Bicol group, respectively. Across-site analysis showed that between Cagayan and Bataan, there were 389 genes associated with 48 signaling and stress-response pathways, for which there was an effect of site in the response to heat; and between Cagayan and Bicol, there were 101 such genes affecting 8 pathways. CONCLUSION: In light of previous work on climate profiling and on population genetics of marine species in the Philippines, our findings suggest that the variation in thermal response among populations might be derived from acclimatory plasticity due to pre-exposure to extreme temperature variations or from population structure shaped by connectivity which leads to adaptive genetic differences among populations.


Assuntos
Braquiúros , Animais , Braquiúros/genética , Perfilação da Expressão Gênica , Brânquias , Resposta ao Choque Térmico/genética , Humanos , Transcriptoma
13.
Mon Not R Astron Soc ; 503(1): 13-27, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33746560

RESUMO

We establish a quantitative relationship between photometric and spectroscopic detections of solar-like oscillations using ab initio, 3D, hydrodynamical numerical simulations of stellar atmospheres. We present a theoretical derivation as a proof of concept for our method. We perform realistic spectral line formation calculations to quantify the ratio between luminosity and radial velocity amplitude for two case studies: the Sun and the red giant ϵ Tau. Luminosity amplitudes are computed based on the bolometric flux predicted by 3D simulations with granulation background modelled the same way as asteroseismic observations. Radial velocity amplitudes are determined from the wavelength shift of synthesized spectral lines with methods closely resembling those used in Birmingham Solar Oscillations Network (BiSON) and Stellar Oscillations Network Group (SONG) observations. Consequently, the theoretical luminosity to radial velocity amplitude ratios are directly comparable with corresponding observations. For the Sun, we predict theoretical ratios of 21.0 and 23.7 ppm [m s-1]-1 from BiSON and SONG, respectively, in good agreement with observations 19.1 and 21.6 ppm [m s-1]-1. For ϵ Tau, we predict K2 and SONG ratios of 48.4 ppm [m s-1]-1, again in good agreement with observations 42.2 ppm [m s-1]-1, and much improved over the result from conventional empirical scaling relations that give 23.2 ppm [m s-1]-1. This study thus opens the path towards a quantitative understanding of solar-like oscillations, via detailed modelling of 3D stellar atmospheres.

14.
Mon Not R Astron Soc ; 500(2): 2159-2176, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33281234

RESUMO

Accurately known stellar lithium abundances may be used to shed light on a variety of astrophysical phenomena such as big bang nucleosynthesis, radial migration, ages of stars and stellar clusters, and planet engulfment events. We present a grid of synthetic lithium spectra that are computed in non-local thermodynamic equilibrium (NLTE) across the stagger grid of three-dimensional (3D) hydrodynamic stellar atmosphere models. This grid covers three Li lines at 610.4, 670.8, and 812.6 nm for stellar parameters representative of FGK-type dwarfs and giants, spanning T eff = 4000-7000 K, log g = 1.5-5.0, [Formula: see text]-0.5, and A(Li) = -0.5-4.0. We find that our abundance corrections are up to 0.15 dex more negative than in previous work, due to a previously overlooked NLTE effect of blocking of UV lithium lines by background opacities, which has important implications for a wide range of science cases. We derive a new 3D NLTE solar abundance of A(Li) = 0.96 ± 0.05, which is 0.09 dex lower than the commonly used value. We make our grids of synthetic spectra and abundance corrections publicly available through the breidablik package. This package includes methods for accurately interpolating our grid to arbitrary stellar parameters through methods based on Kriging (Gaussian process regression) for line profiles, and multilayer perceptrons (a class of fully connected feedforward neural networks) for NLTE corrections and 3D NLTE abundances from equivalent widths, achieving interpolation errors of the order of 0.01 dex.

15.
ACS Omega ; 5(42): 27083-27093, 2020 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-33134668

RESUMO

In this study, the effect of accelerated ultraviolet (UV) aging on the properties of polypropylene (PP) as well as its blend with PP-graft-maleic anhydride (PP-g-MA) and composite with amine-functionalized mullite nanofibers (AMNF) was compared. Solid-state NMR exhibited some changes in the macromolecular chain structure after aging, whereas the formation of degradation products was confirmed through Fourier transform infrared (FTIR) spectroscopy. The aged composite was observed to exhibit the least increment in the crystallinity from X-ray and differential scanning calorimetry (DSC) analyses (0.3 and 0.5%, compared to 9.7 and 10.4%, respectively, for PP) owing to the stability of its amorphous phase against degradation. Similar resistance toward degradation was also confirmed by thermogravimetric analysis (TGA). The surface morphology of the materials also exhibited the lowest extent of surface embrittlement as well as a small number of shallow cracks in the case of a-PP/PP-g-MA/AMNF composite. The aged composite had a much higher impact strength of 14.9 kJ m-2 compared to 2.5 kJ m-2 for aged PP, thus exhibiting its stability against degradation owing to a synergistic combination of the filler and compatibilizer. The optimal performance of the composite was further confirmed through the least extent of reduction in the tensile strength and elongation at break. These findings demonstrate the superior performance of AMNF-reinforced PP composite over PP for outdoor applications.

16.
IEEE Access ; 8: 186821-186839, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-34786294

RESUMO

The novel coronavirus (COVID-19), declared by the World Health Organization (WHO) as a global pandemic, has brought with it changes to the general way of life. Major sectors of the world industry and economy have been affected and the Internet of Things (IoT) management and framework is no exception in this regard. This article provides an up to date survey on how a global pandemic such as COVID-19 has affected the world of IoT technologies. It looks at the contributions that IoT and associated sensor technologies have made towards virus tracing, tracking and spread mitigation. The associated challenges of deployment of sensor hardware in the face of a rapidly spreading pandemic have been looked into as part of this review article. The effects of a global pandemic on the evolution of IoT architectures and management have also been addressed, leading to the likely outcomes on future IoT implementations. In general, this article provides an insight into the advancement of sensor-based E-health towards the management of global pandemics. It also answers the question of how a global virus pandemic has shaped the future of IoT networks.

17.
J Tissue Eng ; 9: 2041731418811183, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30542597

RESUMO

The purpose of this study was to characterize rat adipose-derived stem cells, induce adipose-derived stem cell tenogenesis, and analyze adipose-derived stem cell effects on tendon repair in vivo. Adipose-derived stem cells demonstrated an immunomodulatory, pro-angiogenic, and pro-proliferatory profile in vitro. Tenogenesis was induced for 1, 7, 14, and 21 days with 24 combinations of growth differentiation factor-5, 6, and 7 and platelet-derived growth factor-BB. Adipose-derived stem cells expression of scleraxis and collagen type I increased the most after 14 days of induction with growth differentiation factor-6 and platelet-derived growth factor-BB. Achilles excision defects injected with hydrogel alone (Gp2), with undifferentiated (Gp3) adipose-derived stem cells, or tenogenically differentiated (Gp4) adipose-derived stem cells exhibited improved tissue repair compared with untreated tendons (Gp1). Addition of adipose-derived stem cells improved tissue cytoarchitecture and increased expression of collagen type I and III, scleraxis, and tenomodulin. Adipose-derived stem cells significantly improved biomechanical properties (ultimate load and elastic toughness) over time more than hydrogel alone, while tenogenically differentiated adipose-derived stem cells improved the mean histological score and collagen fiber dispersion range closest to normal tendon. In addition, tendon sections treated with GFP-adipose-derived stem cells exhibited green fluorescence and positive GFP immunostaining on microscopy confirming the in vivo survival of adipose-derived stem cells that were injected into tendon defects to support the effects of adipose-derived stem cells on tissue up to 4.5 weeks post injury.

18.
IEEE/ACM Trans Comput Biol Bioinform ; 15(6): 2067-2073, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29994365

RESUMO

Finding related nucleotide or protein sequences is a fundamental, diverse, and incompletely-solved problem in bioinformatics. It is often tackled by seed-and-extend methods, which first find "seed" matches of diverse types, such as spaced seeds, subset seeds, or minimizers. Seeds are usually found using an index of the reference sequence(s), which stores seed positions in a suffix array or related data structure. A child table is a fundamental way to achieve fast lookup in an index, but previous descriptions have been overly complex. This paper aims to provide a more accessible description of child tables, and demonstrate their generality: they apply equally to all the above-mentioned seed types and more. We also show that child tables can be used without LCP (longest common prefix) tables, reducing the memory requirement.


Assuntos
Biologia Computacional/métodos , Alinhamento de Sequência/métodos , Análise de Sequência/métodos , Software , Algoritmos , Modelos Estatísticos
19.
Bioinformatics ; 34(21): 3631-3637, 2018 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-29790902

RESUMO

Motivation: Split-alignments provide base-pair-resolution evidence of genomic rearrangements. In practice, they are found by first computing high-scoring local alignments, parts of which are then combined into a split-alignment. This approach is challenging when aligning a short read to a large and repetitive reference, as it tends to produce many spurious local alignments leading to ambiguities in identifying the correct split-alignment. This problem is further exacerbated by the fact that rearrangements tend to occur in repeat-rich regions. Results: We propose a split-alignment technique that combats the issue of ambiguous alignments by combining information from probabilistic alignment with positional information from paired-end reads. We demonstrate that our method finds accurate split-alignments, and that this translates into improved performance of variant-calling tools that rely on split-alignments. Availability and implementation: An open-source implementation is freely available at: https://bitbucket.org/splitpairedend/last-split-pe. Supplementary information: Supplementary data are available at Bioinformatics online.


Assuntos
Genômica , Software , Algoritmos , Genoma , Análise de Sequência de DNA
20.
Hum Genet ; 137(2): 129-139, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29356938

RESUMO

The rugged topography of the Himalayan region has hindered large-scale human migrations, population admixture and assimilation. Such complexity in geographical structure might have facilitated the existence of several small isolated communities in this region. We have genotyped about 850,000 autosomal markers among 35 individuals belonging to the four major populations inhabiting the Himalaya and adjoining regions. In addition, we have genotyped 794 individuals belonging to 16 ethnic groups from the same region, for uniparental (mitochondrial and Y chromosomal DNA) markers. Our results in the light of various statistical analyses suggest a closer link of the Himalayan and adjoining populations to East Asia than their immediate geographical neighbours in South Asia. Allele frequency-based analyses likely support the existence of a specific ancestry component in the Himalayan and adjoining populations. The admixture time estimate suggests a recent westward migration of populations living to the East of the Himalaya. Furthermore, the uniparental marker analysis among the Himalayan and adjoining populations reveal the presence of East, Southeast and South Asian genetic signatures. Interestingly, we observed an antagonistic association of Y chromosomal haplogroups O3 and D clines with the longitudinal distance. Thus, we summarise that studying the Himalayan and adjoining populations is essential for a comprehensive reconstruction of the human evolutionary and ethnolinguistic history of eastern Eurasia.


Assuntos
Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Variação Genética , Genética Populacional , Ásia , Povo Asiático , Etnicidade/genética , Frequência do Gene , Haplótipos/genética , Humanos , Filogenia , Polimorfismo de Nucleotídeo Único/genética
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