Results 31 to 40 of about 133,224 (273)

Matrix Completion with Weighted Constraint for Haplotype Estimation [PDF]

, 2018
A new optimization design is proposed for matrix completion by weighting the measurements and deriving the corresponding error bound. Accordingly, the Haplotype reconstruction using nuclear norm minimization with Weighted Constraint (HapWeC) is devised for haplotype estimation. Computer simulations show the outperformance of the HapWeC compared to some
arxiv   +1 more source

Haplotyping Methods for Pedigrees [PDF]

Human Heredity, 2009
Haplotypes provide valuable information in the study of diseases, complex traits, population histories, and evolutionary genetics. With the dramatic increase in the number of available single nucleotide polymorphism (SNP) markers, haplotype inference (haplotyping) using observed genotype data has become an important component of genetic studies in ...
Guimin Gao, Ina Hoeschele, David B. Allison   +2 more
openaire   +3 more sources

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Haplotype-aware graph indexes [PDF]

Bioinformatics, 2019
AbstractMotivationThe variation graph toolkit (VG) represents genetic variation as a graph. Although each path in the graph is a potential haplotype, most paths are nonbiological, unlikely recombinations of true haplotypes.ResultsWe augment the VG model with haplotype information to identify which paths are more likely to exist in nature.
Richard Durbin, Richard Durbin, Benedict Paten, Erik Garrison, Adam M. Novak, Jouni Sirén, Jouni Sirén   +6 more
openaire   +9 more sources

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi, Zitian Tang, Wendy Dong, Jenna Ulibarri, Elvisa Mehinovic, Simone Thomas, Ahmet Höke, Sheng Chih Jin   +7 more
wiley   +1 more source

Pan‐Variant SARS‐CoV‐2 Vaccines Induce Protective Immunity by Targeting Conserved Epitopes

Advanced Science, EarlyView.
An integrative approach identifies conserved B‐cell and T‐cell epitopes within SARS‐CoV‐2 proteins, redirecting immune responses from variable to conserved regions. These epitopes elicit robust humoral and cellular immunity, neutralizing diverse viral variants. Promiscuous T‐cell epitopes demonstrate cross‐species efficacy, highlighting their potential
Masaud Shah, Sung Ung Moon, Ji‐Yon Shin, Ji‐Hye Choi, Doyoon Kim, Hyun Goo Woo   +5 more
wiley   +1 more source

Genome‐Wide Association Studies Reveal the Genetic Architecture of Ionomic Variation in Grains of Tartary Buckwheat

Advanced Science, EarlyView.
In this study, variation and genetic basis of ionome among Tartary buckwheat population are investigated, illuminating their significance in the domestication and diversification of Tartary buckwheat. And three genes (FtACA13 for Na content, FtYPQ1 for Zn content, FtNHX2 for As content) are identified with the dominant haplotypes and functional ...
Zhirong Wang, Yuqi He, Mengyu Zhao, Xiang‐Qian Liu, Hao Lin, Yaliang Shi, Kaixuan Zhang, Guijie Lei, Dili Lai, Tong Liu, Xiaoyang Peng, Jiayue He, Wei Li, Xiangru Wang, Sun‐Hee Woo, Muriel Quinet, Alisdair R. Fernie, Xin‐Yuan Huang, Meiliang Zhou   +18 more
wiley   +1 more source

A Random Forests Framework for Modeling Haplotypes as Mosaics of Reference Haplotypes

Frontiers in Genetics, 2019
Many genomic data analyses such as phasing, genotype imputation, or local ancestry inference share a common core task: matching pairs of haplotypes at any position along the chromosome, thereby inferring a target haplotype as a succession of pieces from reference haplotypes, commonly called a mosaic of reference haplotypes.
Faux, Pierre, Geurts, Pierre, Druet, Tom
openaire   +5 more sources

DPImpute: A Genotype Imputation Framework for Ultra‐Low Coverage Whole‐Genome Sequencing and its Application in Genomic Selection

Advanced Science, EarlyView.
DPImpute is a two‐step pipeline that outperforms existing tools in whole‐genome SNP imputation, particularly under conditions of ultra‐low coverage sequencing, small sample sizes, and limited references. It enables precise imputation for single blastocyst cells, supporting genomic selection at the pre‐implantation stage.
Weigang Zheng, Wenlong Ma, Zhilong Chen, Chao Wang, Tao Sun, Wenjun Dong, Wenjing Zhang, Song Zhang, Zhonglin Tang, Kui Li, Yunxiang Zhao, Yuwen Liu   +11 more
wiley   +1 more source

Genomic Insights into Post‐Domestication Expansion and Selection of Body Size in Ponies

Advanced Science, EarlyView.
The authors’ research delves into the history of ponies by assembling a pony genome and integrating horse genomes. This unveils genetic connections between Asian and European pony breeds. Cis‐regulatory elements of key genes impacting body size are also identified.
Xingzheng Li, Zihao Wang, Min Zhu, Binhu Wang, Shaohua Teng, Jing Yan, Haoyu Wang, Pengxiang Yuan, Shuwei Cao, Xiaolu Qu, Zhen Wang, Kai Zhan, Md. Panir Choudhury, Xintong Yang, Qi Bao, Sang He, Lei Liu, Pengju Zhao, Jicai Jiang, Hai Xiang, Lingzhao Fang, Zhonglin Tang, Yuying Liao, Guoqiang Yi   +23 more
wiley   +1 more source