Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.
Sign Up to like & getrecommendations! Published in 2019 at "Genome research"
DOI: 10.1101/gr.240994.118
Abstract: Recent advances in DNA sequencing have expanded our understanding of the molecular basis of genetic disorders and increased the utilization of clinical genomic tests. Given the paucity of evidence to accurately classify each variant and… read more here.
Keywords: disease specific; variant; disease; pathogenicity prediction ... See more keywords
Insights on variant analysis in silico tools for pathogenicity prediction
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1010327
Abstract: Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, but the interpretation of genetic variants requires expertise and computational power, therefore is still a challenge. Next-generation sequencing releases thousands of variants and… read more here.
Keywords: insights variant; pathogenicity prediction; variant analysis;