Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-00972-3
Abstract: Purpose Accurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. State-of-the-art machine learning variant prioritization tools are imprecise and ignore important parameters defining gene–disease relationships, e.g., distinct consequences of… read more here.
Keywords: disease specific; specific variant; cardiac conditions; disease ... See more keywords
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2210247119
Abstract: Significance Interpretation of missense variants in clinically important genes is a critical challenge. Loss-of-function (LOF) variants in SLC22A5 (OCTN2) cause Carnitine Transporter Deficiency (CTD), a rare but potentially lethal inborn error of metabolism. Motivated by… read more here.
Keywords: specific variant; protein specific; carnitine transporter; transporter deficiency ... See more keywords