A probabilistic disease-gene finder for personal genomes. - Test2 - elhamkhani - TriplyDB

A probabilistic disease-gene finder for personal genomes.

A probabilistic disease-gene finder for personal genomes.

http://www.wikidata.org/entity/Q35195981

about

Improved exome prioritization of disease genes through cross-species phenotype comparison Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.Rare-variant association analysis: study designs and statistical tests Computational and bioinformatics frameworks for next-generation whole exome and genome sequencing Exome sequencing and complex disease: practical aspects of rare variant association studies A public resource facilitating clinical use of genomes Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease Genomic diversity and evolution of the head crest in the rock pigeon Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population Genome-scale sequencing to identify genes involved in Mendelian disorders A primer for disease gene prioritization using next-generation sequencing data Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease Bioinformatics for personal genome interpretation SDS, a structural disruption score for assessment of missense variant deleteriousness.An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Computational solutions for omics data.Unraveling genomic variation from next generation sequencing data.Detecting statistical interaction between somatic mutational events and germline variation from next-generation sequence data.Validation of predicted mRNA splicing mutations using high-throughput transcriptome data.Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data.RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data.Next-generation diagnostics and disease-gene discovery with the Exomiser Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.Sorting out sequencing data.VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer Expanding the computational toolbox for mining cancer genomes.gSearch: a fast and flexible general search tool for whole-genome sequencing.Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing.Molecular genetic testing and the future of clinical genomics.SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.Pathway analysis of genome-wide data improves warfarin dose prediction.

P2860

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P2860

A probabilistic disease-gene finder for personal genomes.

http://www.wikidata.org/entity/Q35195981

description

2011 nî lūn-bûn

@nan

2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հունիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

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name

A probabilistic disease-gene finder for personal genomes.

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A probabilistic disease-gene finder for personal genomes.

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type

label

A probabilistic disease-gene finder for personal genomes.

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A probabilistic disease-gene finder for personal genomes.

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prefLabel

A probabilistic disease-gene finder for personal genomes.

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A probabilistic disease-gene finder for personal genomes.

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Genome Research

P1476

A probabilistic disease-gene finder for personal genomes

@en

P2093

Barry Moore

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

Chad Huff

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Hao Hu

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

Lynn B Jorde

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

Marc Singleton

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Mark Yandell

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Martin G Reese

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P2860

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

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Finding the missing heritability of complex diseases

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Amino acid substitution matrices from protein blocks

Exome sequencing identifies the cause of a mendelian disorder

A map of human genome variation from population-scale sequencing

Basic local alignment search tool

Prediction of complete gene structures in human genomic DNA

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1529-1542

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10.1101/GR.123158.111

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9

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21

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21700766

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3166837

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