ClinVar: updates to support classifications of both germline and somatic variants

ClinVar (www.ncbi.nlm.nih.gov/clinvar/) is a free, public database of human genetic variants and their relationships to disease, with >3 million variants submitted by >2800 organizations across the world. The database was recently updated to have three types of classifications: germline, oncogenicity and clinical impact for somatic variants. As for germline variants, classifications for somatic variants can be submitted in batches in a file submission or through the submission API; variants can also be submitted and updated one at a time in online submission forms. The ClinVar XML files were redesigned to allow multiple classification types. Both old and new formats of the XML are supported through the end of 2024. Data for somatic classifications were also added to the ClinVar VCF files and to several tab-delimited files. The ClinVar VCV pages were updated to display the three types of classifications, both as it was submitted and as it was aggregated by ClinVar. Clinical testing laboratories and others in the cancer community are invited to share their classifications of somatic variant classifications through ClinVar to provide transparency in genomic testing and improve patient care.

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Publication Details

Journal
Nucleic Acids Research
Published
2024-11-23
DOI
https://doi.org/10.1093/nar/gkae1090
Citations
104
Primary Topic
Cancer Genomics and Diagnostics
Type
article
Field-Weighted Citation Impact
29.66

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article

ClinVar: updates to support classifications of both germline and somatic variants

Andrew Russette, Zenith Maddipatla, Joseph S. B. Mitchell, Wonhee Jang et al.
104 citations
Nucleic Acids Research
Cancer Genomics and Diagnostics
29.66
article

ClinVar: updates to support classifications of both germline and somatic variants

Andrew Russette, Zenith Maddipatla, Joseph S. B. Mitchell, Wonhee Jang, Shanmuga Chitipiralla, Kuljeet Kaur, George Riley, Melissa Landrum, Lora Ziyabari, Guangfeng Song, Jennifer Hart, Douglas Hoffman, Tayebeh Rezaie, B Kattman, Chao Chen, Chunlei Liu, Jinpeng Yang, Rama Maiti, Garth Brown
article en
104 citations

Abstract

ClinVar (www.ncbi.nlm.nih.gov/clinvar/) is a free, public database of human genetic variants and their relationships to disease, with >3 million variants submitted by >2800 organizations across the world. The database was recently updated to have three types of classifications: germline, oncogenicity and clinical impact for somatic variants. As for germline variants, classifications for somatic variants can be submitted in batches in a file submission or through the submission API; variants can also be submitted and updated one at a time in online submission forms. The ClinVar XML files were redesigned to allow multiple classification types. Both old and new formats of the XML are supported through the end of 2024. Data for somatic classifications were also added to the ClinVar VCF files and to several tab-delimited files. The ClinVar VCV pages were updated to display the three types of classifications, both as it was submitted and as it was aggregated by ClinVar. Clinical testing laboratories and others in the cancer community are invited to share their classifications of somatic variant classifications through ClinVar to provide transparency in genomic testing and improve patient care.

Nucleic Acids ResearchVol. 53(D1)
National Institutes of Health (US), National Center for Biotechnology Information (US)
U.S. National Library of Medicine
Partnerships for the goals
Openalex Percentile: Top 0%
Cancer Genomics and Diagnostics
29.66
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