We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data.
- Authors
Zhou, Jianteng; Gao, Jianing; Zhang, Huan; Zhao, Daren; Li, Ao; Iqbal, Furhan; Shi, Qinghua; Zhang, Yuanwei
- Abstract
With the advances of next-generation sequencing technology, the field of disease research has been revolutionized. However, pinpointing the disease-causing variants from millions of revealed variants is still a tough task. Here, we have reviewed the existing linkage analysis tools and presented PedMiner, a web-based application designed to narrow down candidate variants from family based whole-exome sequencing (WES) data through linkage analysis. PedMiner integrates linkage analysis, variant annotation and prioritization in one automated pipeline. It provides graphical visualization of the linked regions along with comprehensive annotation of variants and genes within these linked regions. This efficient and comprehensive application will be helpful for the scientific community working on Mendelian inherited disorders using family based WES data.
- Subjects
WEB-based user interfaces; GENETIC variation; NUCLEOTIDE sequencing; GENETIC disorders; SCIENTIFIC community
- Publication
Briefings in Bioinformatics, 2021, Vol 22, Issue 3, p1
- ISSN
1467-5463
- Publication type
Article
- DOI
10.1093/bib/bbaa077