ClinVar: improvements to accessing data

被引：626

作者：

Landrum, Melissa J. ^{[1
]}

Chitipiralla, Shanmuga ^{[1
]}

Brown, Garth R. ^{[1
]}

Chen, Chao ^{[1
]}

Gu, Baoshan ^{[1
]}

Hart, Jennifer ^{[1
]}

Hoffman, Douglas ^{[1
]}

Jang, Wonhee ^{[1
]}

Kaur, Kuljeet ^{[1
]}

Liu, Chunlei ^{[1
]}

Lyoshin, Vitaly ^{[1
]}

Maddipatla, Zenith ^{[1
]}

Maiti, Rama ^{[1
]}

Mitchell, Joseph ^{[1
]}

O'Leary, Nuala ^{[1
]}

Riley, George R. ^{[1
]}

Shi, Wenyao ^{[1
]}

Zhou, George ^{[1
]}

Schneider, Valerie ^{[1
]}

Maglott, Donna ^{[1
]}

Holmes, J. Bradley ^{[1
]}

Kattman, Brandi L. ^{[1
]}

机构：

[1] Natl Ctr Biotechnol Informat, Natl Lib Med, NIH, Bethesda, MD 20894 USA

来源：

NUCLEIC ACIDS RESEARCH | 2020年 / 48卷 / D1期

基金：

美国国家卫生研究院;

关键词：

SEQUENCE VARIANTS; MEDICAL GENETICS; AMERICAN-COLLEGE;

D O I：

10.1093/nar/gkz972

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

ClinVar is a freely available, public archive of human genetic variants and interpretations of their relationships to diseases and other conditions, maintained at the National Institutes of Health (NIH). Submitted interpretations of variants are aggregated and made available on the ClinVar website (https://www.ncbi.nlm.nih.gov/clinvar/), and as downloadable files via FTP and through programmatic tools such as NCBI's E-utilities. The default view on the ClinVar website, the Variation page, was recently redesigned. The new layout includes several new sections that make it easier to find submitted data as well as summary data such as all diseases and citations reported for the variant. The new design also better represents more complex data such as haplotypes and genotypes. as well as variants that are in ClinVar as part of a haplotype or genotype but have no interpretation for the single variant. ClinVar's variant-centric XML had its production release in April 2019. The ClinVar website and E-utilities both have been updated to support the VCV (variation in ClinVar) accession numbers found in the variant-centric XML file. ClinVar's search engine has been fine-tuned for improved retrieval of search results.

引用

页码：D835 / D844

页数：10

共 14 条

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