Article
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.
Human mutation - 1 Feb 2020
Lee In-Hee, Negron Jose A, Hernandez-Ferrer Carles, Alvarez William Jefferson, Mandl Kenneth D, Kong Sek Won
Abstract excerpt
Genome sequencing is positioned as a routine clinical work-up for diverse clinical conditions. A commonly used approach to highlight candidate variants with potential clinical implication is to search over locus- and gene-centric knowledge databases. Most web-based applications allow a federated query across diverse databases for a single variant; however, sifting through a large number of genomic variants with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
