ClinVar:支持种系变异和体细胞变异分类的更新

IF 16.6 2区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Nucleic Acids Research Pub Date : 2024-11-23 DOI:10.1093/nar/gkae1090
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
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引用次数: 0

摘要

ClinVar(www.ncbi.nlm.nih.gov/clinvar/)是一个免费的人类基因变异及其与疾病关系的公共数据库,全球有 2800 个组织提交了 300 万个变异。该数据库最近进行了更新,将体细胞变异分为三类:种系变异、致癌变异和临床影响变异。与种系变异一样,体细胞变异的分类可以通过文件提交或提交 API 批量提交;变异也可以通过在线提交表单逐个提交和更新。ClinVar XML 文件经过重新设计,允许使用多种分类类型。新旧两种 XML 格式均支持到 2024 年底。ClinVar VCF 文件和几个制表符分隔文件中也添加了体细胞分类数据。更新了 ClinVar VCV 页面,以显示提交和 ClinVar 聚合的三种分类。欢迎临床检测实验室和癌症社区的其他人员通过 ClinVar 分享他们的体细胞变异分类,以提高基因组检测的透明度并改善患者护理。
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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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来源期刊
Nucleic Acids Research
Nucleic Acids Research 生物-生化与分子生物学
CiteScore
27.10
自引率
4.70%
发文量
1057
审稿时长
2 months
期刊介绍: Nucleic Acids Research (NAR) is a scientific journal that publishes research on various aspects of nucleic acids and proteins involved in nucleic acid metabolism and interactions. It covers areas such as chemistry and synthetic biology, computational biology, gene regulation, chromatin and epigenetics, genome integrity, repair and replication, genomics, molecular biology, nucleic acid enzymes, RNA, and structural biology. The journal also includes a Survey and Summary section for brief reviews. Additionally, each year, the first issue is dedicated to biological databases, and an issue in July focuses on web-based software resources for the biological community. Nucleic Acids Research is indexed by several services including Abstracts on Hygiene and Communicable Diseases, Animal Breeding Abstracts, Agricultural Engineering Abstracts, Agbiotech News and Information, BIOSIS Previews, CAB Abstracts, and EMBASE.
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