Trajectory of exonic variant discovery in a large clinical population: implications for variant curation
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0353-5
Abstract: PurposePrecision health initiatives and reduced sequencing costs are driving large-scale human genome analyses. Genetic variant curation is a bottleneck in clinical applications. The burden of variant curation can be high for newly discovered variants because… read more here.
Keywords: variant discovery; discovery; rate; curation ... See more keywords
A 975-mW Fully Integrated Genetic Variant Discovery System-on-Chip in 28 nm for Next-Generation Sequencing
Sign Up to like & getrecommendations! Published in 2021 at "IEEE Journal of Solid-State Circuits"
DOI: 10.1109/jssc.2020.3031183
Abstract: This article presents the first dedicated system-on-chip (SoC) that supports full data analysis workflow for genetic variant discovery for next-generation sequencing (NGS). The SoC implements four major steps: preprocessing, short-read mapping, haplotype calling, and variant… read more here.
Keywords: tex math; variant discovery; system; inline formula ... See more keywords