Article
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments.
GigaScience - 28 Dec 2022
Farek Jesse, Hughes Daniel, Salerno William, Zhu Yiming, Pisupati Aishwarya, Mansfield Adam, Krasheninina Olga, English Adam C, Metcalf Ginger, Boerwinkle Eric, Muzny Donna M, Gibbs Richard, Khan Ziad, Sedlazeck Fritz J
Abstract excerpt
BACKGROUND: The growing volume and heterogeneity of next-generation sequencing (NGS) data complicate the further optimization of identifying DNA variation, especially considering that curated high-confidence variant call sets frequently used to validate these methods are generally developed from the analysis of comparatively small and homogeneous sample sets. FINDINGS: We have developed xAtlas, a single-sample...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.