Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.
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A global reference for human genetic variationInherited platelet disorders: toward DNA-based diagnosisOpportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic EraAnalysis of protein-coding genetic variation in 60,706 humansWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesComplexity and diversity of F8 genetic variations in the 1000 genomes267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationIn silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localizationProgress in methods for rare variant associationGuidelines for investigating causality of sequence variants in human diseaseEthical and legal implications of whole genome and whole exome sequencing in African populations.An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretationPathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental resultsIntegrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing dataPrioritizing genes for X-linked diseases using population exome data.Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.Supporting precision medicine by data mining across multi-disciplines: an integrative approach for generating comprehensive linkages between single nucleotide variants (SNVs) and drug-binding sites.Genomics of platelet disorders.Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.Clinical interpretation and implications of whole-genome sequencing.The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine8-oxoguanine causes spontaneous de novo germline mutations in mice.Global and disease-associated genetic variation in the human Fanconi anemia gene family.Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.The role of the interactome in the maintenance of deleterious variability in human populationsLiving laboratory: whole-genome sequencing as a learning healthcare enterprise.Assessment of autozygosity in Nellore cows (Bos indicus) through high-density SNP genotypes.Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.Personalized biochemistry and biophysics.The Relationship between Runs of Homozygosity and Inbreeding in Jersey Cattle under SelectionIndividualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.Systematic Mapping of Protein Mutational Space by Prolonged Drift Reveals the Deleterious Effects of Seemingly Neutral MutationsIdentification of Medically Actionable Secondary Findings in the 1000 Genomes.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersSo rare we need to hunt for them: reframing the ethical debate on incidental findings.Causes and consequences of obesity: epigenetics or hypokinesis?How to Define Pathogenicity, Health, and Disease?Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource.
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P2860
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Deleterious- and disease-allel ...... population-scale resequencing.
@ast
Deleterious- and disease-allel ...... population-scale resequencing.
@en
type
label
Deleterious- and disease-allel ...... population-scale resequencing.
@ast
Deleterious- and disease-allel ...... population-scale resequencing.
@en
prefLabel
Deleterious- and disease-allel ...... population-scale resequencing.
@ast
Deleterious- and disease-allel ...... population-scale resequencing.
@en
P2093
P2860
P50
P1476
Deleterious- and disease-allel ...... population-scale resequencing.
@en
P2093
Andrew D Phillips
Edward V Ball
Matthew Mort
Peter D Stenson
P2860
P304
P356
10.1016/J.AJHG.2012.10.015
P407
P577
2012-12-01T00:00:00Z