ClinGen Allele Registry links information about genetic variants (Q57455591)

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28 April 2020

title

ClinGen Allele Registry links information about genetic variants (English)

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Mathew W Wright

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Melissa Landrum

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Ronak Y Patel

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Peter Mcgarvey

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Aleksandar Milosavljevic

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Selina Dwight

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Robert R Freimuth

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Chris Bizon

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Bradford Powell

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author name string

Piotr Pawliczek

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Lillian R Ashmore

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Andrew R Jackson

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Tristan Nelson

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Neethu Shah

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Sameer Paithankar

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Jimmy Zhen

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Larry Babb

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Sharon E Plon

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28 April 2020

Clinical Genome (ClinGen) Resource

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28 April 2020

language of work or name

English

0 references

publication date

1 November 2018

1 reference

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1 reference

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volume

39

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issue

11

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page(s)

1690-1701

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The Ensembl gene annotation system

28 April 2020

cites work

1 reference

7 January 2021

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

1 reference

7 January 2021

wANNOVAR: annotating genetic variants for personal genomes via the web.

1 reference

7 January 2021

LOVD v.2.0: the next generation in gene variant databases

1 reference

7 January 2021

COSMIC: somatic cancer genetics at high-resolution

1 reference

7 January 2021

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

1 reference

7 January 2021

GENOMICS. A federated ecosystem for sharing genomic, clinical data

1 reference

7 January 2021

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer

1 reference

7 January 2021

ClinVar: public archive of interpretations of clinically relevant variants

1 reference

7 January 2021

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

1 reference

7 January 2021

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

1 reference

7 January 2021

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

1 reference

7 January 2021

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

1 reference

7 January 2021

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

1 reference

7 January 2021

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

1 reference

7 January 2021

dbSNP: the NCBI database of genetic variation

1 reference

7 January 2021

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

7 January 2021

The FAIR Guiding Principles for scientific data management and stewardship

1 reference

7 January 2021

High-performance web services for querying gene and variant annotation

1 reference

7 January 2021

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.

1 reference

7 January 2021

A variant by any name: quantifying annotation discordance across tools and clinical databases

1 reference

7 January 2021

Unified representation of genetic variants

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30311374

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/HUMU.23637

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30311374 AND SRC:MED&resulttype=core&format=json

28 April 2020

1 reference

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28 April 2020

PubMed publication ID

30311374

1 reference