Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease
about
Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to GreenlandAnalyzing and interpreting genome data at the network level with ConsensusPathDBThe population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequencesTesting the role of predicted gene knockouts in human anthropometric trait variationGenomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome.On Robust Association Testing for Quantitative Traits and Rare Variants.Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.Population- and individual-specific regulatory variation in Sardinia.Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits.Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression.Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study.ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition.Loss-of-function of neuroplasticity-related genes confers risk for human neurodevelopmental disorders.Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.TXNDC5 is a cervical tumor susceptibility gene that stimulates cell migration, vasculogenic mimicry and angiogenesis by down-regulating SERPINF1 and TRAF1 expression.TXNDC5 contributes to rheumatoid arthritis by down-regulating IGFBP1 expression.Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.Are Nonsense Alleles of Drosophila melanogaster Genes under Any Selection?Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study.Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.
P2860
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P2860
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease
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2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
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2015年論文
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name
Analysis of loss-of-function v ...... ci influencing chronic disease
@ast
Analysis of loss-of-function v ...... ci influencing chronic disease
@en
type
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Analysis of loss-of-function v ...... ci influencing chronic disease
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Analysis of loss-of-function v ...... ci influencing chronic disease
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Analysis of loss-of-function v ...... ci influencing chronic disease
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Analysis of loss-of-function v ...... ci influencing chronic disease
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P2093
P2860
P50
P356
P1433
P1476
Analysis of loss-of-function v ...... ci influencing chronic disease
@en
P2093
Alexander H Li
Christie Kovar
Ginger Metcalf
Jennifer A Brody
L Adrienne Cupples
Linda M Polfus
Narayanan Veeraraghavan
Richard A Gibbs
Thomas Lumley
P2860
P2888
P304
P356
10.1038/NG.3270
P407
P577
2015-04-27T00:00:00Z