VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome

(database[TitleAbstract]) AND (Nucleic acids research[Journal]) 2024-04-28

Summary:

VarCards, an online database, combines comprehensive variant- and gene-level annotation data to streamline genetic counselling for coding variants. Recognising the increasing clinical relevance of non-coding variations, there has been an accelerated development of bioinformatics tools dedicated to interpreting non-coding variations, including single-nucleotide variants and copy number variations. Regrettably, most tools remain as either locally installed databases or command-line tools dispersed...

Link:

https://pubmed.ncbi.nlm.nih.gov/37956311/?utm_source=Other&utm_medium=rss&utm_campaign=pubmed-2&utm_content=1VsHRGSo3HX0CgC40wRgBdaScQKv8CRE2sO_GaWJzhPEXTSQfX&fc=20220129230418&ff=20240428090854&v=2.18.0.post9+e462414

From feeds:

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

Tags:

Authors:

Zheng Wang, Guihu Zhao, Zhaopo Zhu, Yijing Wang, Xudong Xiang, Shiyu Zhang, Tengfei Luo, Qiao Zhou, Jian Qiu, Beisha Tang, Kun Xia, Bin Li, Jinchen Li

Date tagged:

04/28/2024, 09:09

Date published:

11/13/2023, 06:00