130 citations · 130 across the 1 of their papers we have counts for
2 papers
q-bio.OT2024
Guidelines for releasing a variant effect predictor
Benjamin J. Livesey, Mihaly Badonyi, Mafalda Dias +15
Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human geneti…
q-bio.GN2023★ 130 cited
Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha +21
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise…