A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. - Wikidata - wikimedia - TriplyDB

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

http://www.wikidata.org/entity/Q30823228

about

Next-generation gene discovery for variants of large impact on lipid traits Pedigree based DNA sequencing pipeline for germline genomes of cancer families Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data.Adjusting for Familial Relatedness in the Analysis of GWAS Data.PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.Rare variant association studies: considerations, challenges and opportunities.Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma.Rare variants in neuronal excitability genes influence risk for bipolar disorder.Genome-Wide Association Study of Staphylococcus aureus Carriage in a Community-Based Sample of Mexican-Americans in Starr County, Texas.FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.Exome Sequencing Analysis in Severe, Early-Onset Chronic Obstructive Pulmonary Disease.VARPRISM: incorporating variant prioritization in tests of de novo mutation association.PADRE: Pedigree-Aware Distant-Relationship Estimation Identification of candidate genes for familial early-onset essential tremor.Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.Pediatric acute liver failure of undetermined cause: A research workshop.Gene-based segregation method for identifying rare variants in family-based sequencing studies.PERCH: A Unified Framework for Disease Gene Prioritization.Analysis of Quantitative Trait Loci.Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.The genetic basis of idiopathic pulmonary fibrosis XPAT: a toolkit to conduct cross-platform association studies with heterogeneous sequencing datasets.Primary Ovarian Insufficiency and Azospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.When disease strikes from nowhere.Settling the score: variant prioritization and Mendelian disease.Taking Systems Medicine to Heart.POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women.Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.

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P2860

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

http://www.wikidata.org/entity/Q30823228

description

2014 nî lūn-bûn

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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2014 թվականի մայիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

A unified test of linkage anal ...... sis of pedigree sequence data.

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A unified test of linkage anal ...... sis of pedigree sequence data.

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type

label

A unified test of linkage anal ...... sis of pedigree sequence data.

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A unified test of linkage anal ...... sis of pedigree sequence data.

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prefLabel

A unified test of linkage anal ...... sis of pedigree sequence data.

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A unified test of linkage anal ...... sis of pedigree sequence data.

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Nature Biotechnology

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A unified test of linkage anal ...... ysis of pedigree sequence data

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P2093

Barry Moore

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Chad D Huff

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David J Galas

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Deepak Srivastava

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Hao Hu

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Hong Li

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Jacob D Durtschi

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Jared C Roach

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Karl V Voelkerding

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Leroy Hood

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P2860

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

An integrated map of genetic variation from 1,092 human genomes

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

A map of human genome variation from population-scale sequencing

Strong association of de novo copy number mutations with autism

Fast and accurate short read alignment with Burrows-Wheeler transform

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

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

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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663-669

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10.1038/NBT.2895

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7

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32

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Gustavo Glusman

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2014-05-18T00:00:00Z

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262418199

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24837662

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4157619

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