Exome-based mapping and variant prioritization for inherited Mendelian disorders. - Wikidata - awgldk - TriplyDB

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

http://www.wikidata.org/entity/Q37634128

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Using familial information for variant filtering in high-throughput sequencing studies A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.Low-Frequency IL23R Coding Variant Associated with Crohn's Disease Susceptibility in Japanese Subjects Identified by Personal Genomics Analysis.Reducing the search space for causal genetic variants with VASP.FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.Symptom-driven idiopathic disease gene identification.Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.Genome-wide significance testing of variation from single case exomes.Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Gene-based segregation method for identifying rare variants in family-based sequencing studies.PERCH: A Unified Framework for Disease Gene Prioritization.GeneCOST: a novel scoring-based prioritization framework for identifying disease causing genes.Family genome browser: visualizing genomes with pedigree information.Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio.Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study

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Exome-based mapping and variant prioritization for inherited Mendelian disorders.

http://www.wikidata.org/entity/Q37634128

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 20 February 2014

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

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name

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

@en

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

@nl

type

label

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

@en

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

@nl

prefLabel

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

@en

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

@nl

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J.AJHG.2014.01.016

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American Journal of Human Genetics

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Exome-based mapping and variant prioritization for inherited Mendelian disorders.

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Aimee C Buhr

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Daniel C Koboldt

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David E Larson

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Lori S Sullivan

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Nathan Nutter

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Richard K Wilson

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Sara J Bowne

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Susan H Blanton

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P2860

Retinitis pigmentosa

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Whole-exome-sequencing-based discovery of human FADD deficiency

Exome sequencing identifies the cause of a mendelian disorder

dbSNP: the NCBI database of genetic variation

GENCODE: the reference human genome annotation for The ENCODE Project

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

Exome sequencing reveals VCP mutations as a cause of familial ALS

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

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373-384

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scholarly article

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10.1016/J.AJHG.2014.01.016

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Jennifer D. Churchill

George Weinstock

Karyn Meltz Steinberg

Stephen P. Daiger

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2014-02-20T00:00:00Z

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