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

(database[TitleAbstract]) AND (Nucleic acids research[Journal]) 2025-03-08

Summary:

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...

Link:

https://pubmed.ncbi.nlm.nih.gov/39578691/?utm_source=Other&utm_medium=rss&utm_campaign=pubmed-2&utm_content=1VsHRGSo3HX0CgC40wRgBdaScQKv8CRE2sO_GaWJzhPEXTSQfX&fc=20220129230418&ff=20250308002335&v=2.18.0.post9+e462414

From feeds:

📚BioDBS Bibliography » (database[TitleAbstract]) AND (Nucleic acids research[Journal])

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Authors:

Melissa J Landrum, Shanmuga Chitipiralla, Kuljeet Kaur, Garth Brown, Chao Chen, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Chunlei Liu, Zenith Maddipatla, Rama Maiti, Joseph Mitchell, Tayebeh Rezaie, George Riley, Guangfeng Song, Jinpeng Yang, Lora Ziyabari, Andrew Russette, Brandi L Kattman

Date tagged:

03/08/2025, 00:25

Date published:

11/23/2024, 06:00