A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
about
Next-generation gene discovery for variants of large impact on lipid traitsPedigree based DNA sequencing pipeline for germline genomes of cancer familiesUsing VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicineNext 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 StudiesExome 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 EstimationIdentification 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 fibrosisXPAT: 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.
P2860
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P2860
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A unified test of linkage anal ...... sis of pedigree sequence data.
@ast
A unified test of linkage anal ...... sis of pedigree sequence data.
@en
type
label
A unified test of linkage anal ...... sis of pedigree sequence data.
@ast
A unified test of linkage anal ...... sis of pedigree sequence data.
@en
prefLabel
A unified test of linkage anal ...... sis of pedigree sequence data.
@ast
A unified test of linkage anal ...... sis of pedigree sequence data.
@en
P2093
P2860
P50
P356
P1433
P1476
A unified test of linkage anal ...... ysis of pedigree sequence data
@en
P2093
Barry Moore
Chad D Huff
David J Galas
Deepak Srivastava
Jacob D Durtschi
Jared C Roach
Karl V Voelkerding
Leroy Hood
P2860
P2888
P304
P356
10.1038/NBT.2895
P577
2014-05-18T00:00:00Z