Analysis of protein-coding genetic variation in 60,706 humans
about
Medical implications of technical accuracy in genome sequencingGNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.High-performance web services for querying gene and variant annotationPedigree based DNA sequencing pipeline for germline genomes of cancer familiesIFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndromeMultidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.Quantifying prion disease penetrance using large population control cohortsTP53 Mutation Spectrum in Smokers and Never Smoking Lung Cancer Patients.Taming the genome: towards better genetic test interpretation.Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation.Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease.Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions.Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.Sequencing-based diagnostics for pediatric genetic diseases: progress and potentialComputational analyses of the effect of novel amino acid clusters of human transglutaminase 2 on its structure and function.Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.Disease-specific biases in alternative splicing and tissue-specific dysregulation revealed by multitissue profiling of lymphocyte gene expression in type 1 diabetes.Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.Genetic analysis of very obese children with autism spectrum disorder.Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.Reevaluation of RINT1 as a breast cancer predisposition gene.Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.
P2860
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P2860
Analysis of protein-coding genetic variation in 60,706 humans
description
2015 nî lūn-bûn
@nan
2015 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Analysis of protein-coding genetic variation in 60,706 humans
@ast
Analysis of protein-coding genetic variation in 60,706 humans
@en
Analysis of protein-coding genetic variation in 60,706 humans
@nl
type
label
Analysis of protein-coding genetic variation in 60,706 humans
@ast
Analysis of protein-coding genetic variation in 60,706 humans
@en
Analysis of protein-coding genetic variation in 60,706 humans
@nl
prefLabel
Analysis of protein-coding genetic variation in 60,706 humans
@ast
Analysis of protein-coding genetic variation in 60,706 humans
@en
Analysis of protein-coding genetic variation in 60,706 humans
@nl
P3181
P356
P1476
Analysis of protein-coding genetic variation in 60,706 humans
@en
P3181
P356
10.1101/030338
P577
2015-10-30T00:00:00Z