Results 61 to 70 of about 11,897 (169)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Immunohistochemically (IHC) measured transactive response DNA‐binding protein 43 (TDP‐43) inclusions are observed in Alzheimer's disease (AD) and are associated with medial temporal lobe atrophy. Accumulation of cryptic exons occurs in AD in response to TDP‐43 pathology.
Hossam Youssef +18 more
wiley +1 more source
Genetic‐Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis
Annals of Neurology, EarlyView.Objective Multiple sclerosis (MS) develops after a prolonged preclinical phase. Identifying circulating biomarkers that capture this early biology can improve risk stratification and guide intervention. We aimed to identify plasma proteins driving MS susceptibility using large‐scale proteogenomic integration and to evaluate their prediagnostic ...
Yuan Ding +5 more
wiley +1 more source
Discovery of Single Nucleotide Polymorphisms in Complex Genomes Using SGSautoSNP
Biology, 2012 Single nucleotide polymorphisms (SNPs) are becoming the dominant form of molecular marker for genetic and genomic analysis. The advances in second generation DNA sequencing provide opportunities to identify very large numbers of SNPs in a range of ...
Jacqueline Batley +10 more
doaj +1 more source
Detecting cryptic ghost lineage introgression in four‐taxon genomic datasets
Applications in Plant Sciences, EarlyView.Abstract Premise Hybridization and introgression are pervasive evolutionary forces that have played fundamental roles in shaping the diversity of wild and domesticated plants. Four‐taxon tests for introgression provide a reliable framework for detecting signatures of ancient introgression from genomic data, which have played an important role in ...
Evan S. Forsythe +3 more
wiley +1 more source
Modeling Haplotype-Haplotype Interactions in Case-Control Genetic Association Studies
Frontiers in Genetics, 2012 Haplotype analysis has been increasingly used to study the genetic basis of human diseases, but models for characterizing genetic interactions between haplotypes from different chromosomal regions have not been well developed in the current literature ...
Li eZhang +4 more
doaj +1 more source
tanggle: An R package for the visualization of phylogenetic networks
Applications in Plant Sciences, EarlyView.Abstract Premise Phylogenetic trees depict evolutionary relationships among taxa. However, they are strictly bifurcating structures that do not take into account several types of evolutionary events such as horizontal gene transfer, hybridization, or introgression. Although the development of new methods in phylogenetic networks has recently increased,
Klaus Schliep +6 more
wiley +1 more source
Applications in Plant Sciences, EarlyView.Abstract Premise Advances in long‐read sequencing offer new possibilities to investigate haplotype diversity across multiple genes in plants and other taxa through multi‐locus, long‐read amplicon sequencing (multi‐locus LRAS). Despite this progress, there is a notable absence of dedicated bioinformatics pipelines for assembling diploid haplotypes of ...
Ayodele Oluwaseyi Fakoya +4 more
wiley +1 more source
Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak
Animal Research and One Health, EarlyView.Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan +15 more
wiley +1 more source
Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep
Animal Research and One Health, EarlyView.Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang +3 more
wiley +1 more source