International Journal Open Access

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

Authors

Sue Richards, Nazneen Aziz, Sherri J. Bale, David P Bick, Soma Das, Julie M. Gastier‐Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector

Journal

Genetics in Medicine

Year Published

2015

Publisher

Elsevier BV

Citations

32446 citations

Type

Article

Language

EN

Topics & Concepts

Medical genetics (0.69) Workgroup (0.63) Exome sequencing (0.61) Context (archaeology) (0.58) Exome (0.53)

Abstract

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 - Full text available via OpenAlex

Author Details

Sue Richards

Nazneen Aziz

Sherri J. Bale

David P Bick

ORCID

Soma Das

ORCID

Julie M. Gastier‐Foster

ORCID

Wayne W. Grody

Madhuri Hegde

ORCID

Elaine Lyon

Elaine Spector

ORCID
... and 2 more authors

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