Genic intolerance to functional variation and the interpretation of personal genomes - Wikidata - awgldk - TriplyDB

Genic intolerance to functional variation and the interpretation of personal genomes

Genic intolerance to functional variation and the interpretation of personal genomes

http://www.wikidata.org/entity/Q31129974

about

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies Novel bioinformatic developments for exome sequencing Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements Genetics and biology of primary ciliary dyskinesia Analysis of protein-coding genetic variation in 60,706 humans A review of post-GWAS prioritization approaches La FAM fatale: USP9X in development and disease CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.New insights into the generation and role of de novo mutations in health and disease Human GRIN2B variants in neurodevelopmental disorders Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders Next-generation gene discovery for variants of large impact on lipid traits Loss of synaptic Zn2+ transporter function increases risk of febrile seizures A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3 Low load for disruptive mutations in autism genes and their biased transmission Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder Pedigree based DNA sequencing pipeline for germline genomes of cancer families Impairment of translation in neurons as a putative causative factor for autism Testing the role of predicted gene knockouts in human anthropometric trait variation Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway A framework for the interpretation of de novo mutation in human disease De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism An expanded sequence context model broadly explains variability in polymorphism levels across the human genome De novo mutations in SIK1 cause a spectrum of developmental epilepsies.SDS, a structural disruption score for assessment of missense variant deleteriousness.New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene Prioritizing genes for X-linked diseases using population exome data.Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data Integrative analysis of functional genomic annotations and sequencing data to identify rare causal variants via hierarchical modeling.

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P2860

Genic intolerance to functional variation and the interpretation of personal genomes

http://www.wikidata.org/entity/Q31129974

description

2013 nî lūn-bûn

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2013 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2013年の論文

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2013年学术文章

@wuu

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

name

Genic intolerance to functional variation and the interpretation of personal genomes

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Genic intolerance to functional variation and the interpretation of personal genomes

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type

label

Genic intolerance to functional variation and the interpretation of personal genomes

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Genic intolerance to functional variation and the interpretation of personal genomes

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prefLabel

Genic intolerance to functional variation and the interpretation of personal genomes

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Genic intolerance to functional variation and the interpretation of personal genomes

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JOURNAL.PGEN.1003709

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Genic intolerance to functional variation and the interpretation of personal genomes

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Andrew S Allen

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David B Goldstein

http://www.w3.org/2001/XMLSchema#string

Erin L Heinzen

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Quanli Wang

http://www.w3.org/2001/XMLSchema#string

P2860

From mouse to human: evolutionary genomics analysis of human orthologs of essential genes

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

The human disease network

Simple methods for estimating the numbers of synonymous and nonsynonymous nucleotide substitutions

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

A method and server for predicting damaging missense mutations

A codon-based model of nucleotide substitution for protein-coding DNA sequences

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

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e1003709

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scholarly article

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10.1371/JOURNAL.PGEN.1003709

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8

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Slavé Petrovski

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2013-08-22T00:00:00Z

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