Systematic reanalysis of genomic data improves quality of variant interpretation.

about

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

P2860

Q57455595-004E3C63-868B-4B84-9DB9-5C01BF94A465

P2860

Systematic reanalysis of genomic data improves quality of variant interpretation.

Item

http://www.wikidata.org/entity/Q52590322

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Systematic reanalysis of genomic data improves quality of variant interpretation.

@en

Systematic reanalysis of genomic data improves quality of variant interpretation.

@nl

type

Item

label

Systematic reanalysis of genomic data improves quality of variant interpretation.

@en

Systematic reanalysis of genomic data improves quality of variant interpretation.

@nl

prefLabel

Systematic reanalysis of genomic data improves quality of variant interpretation.

@en

Systematic reanalysis of genomic data improves quality of variant interpretation.

@nl

P1476

Systematic reanalysis of genomic data improves quality of variant interpretation

@en

P2093

C A Rich

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

C R Finnila

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

D E Gray

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

E J Lose

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

E M Bebin

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

G S Barsh

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

J M J Lawlor

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

J N Cochran

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

K B Brothers

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

K M Bowling

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

P2860

Analysis of protein-coding genetic variation in 60,706 humans

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Prader-Willi Syndrome

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

ClinVar: public archive of interpretations of clinically relevant variants

A general framework for estimating the relative pathogenicity of human genetic variants

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

Genomic diagnosis for children with intellectual disability and/or developmental delay

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

P304

174-178

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

P31

scholarly article

P356

10.1111/CGE.13259

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

P433

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

P478

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

P50

Gregory M Cooper

P577

2018-05-10T00:00:00Z

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

P698

29652076

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

P932

5995667

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

Systematic reanalysis of genomic data improves quality of variant interpretation.

about

P2860

P2860

Systematic reanalysis of genomic data improves quality of variant interpretation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932