HMS press release about our network-based statistical framework, NERINE, recently published in @cellpress.bsky.social
New Tool Helps Uncover Rare Genetic Mutations in Common Diseases, Including Parkinson’s
NERINE bridges model systems and human genetics, points to potential drug targets
hms.harvard.edu
Very happy with study spearheaded by Prathitha. One highlight for me. Building on idea from elifesciences.org/articles/71513 we showed that it is possible to detect selection for individual missense mutations in hypermutable sites.
Mutation saturation for fitness effects at human CpG sites
Methylated CpG sites are saturated for T mutations in a sample of 390K human exomes, providing a test case for inferences about fitness effects in human genes, and insight into the interpretation of m...
elifesciences.org
Excited to share our new preprint, "Inference of elevated mutation rates and variant effects using 700k exomes"! - www.biorxiv.org/content/10.6... Using gnomAD v4, we estimate per-variant missense selection coefficients, and find loss-of-function (LoF) mutations with enhanced mutation rates.
Excited to share our new preprint, "Inference of elevated mutation rates and variant effects using 700k exomes"! - www.biorxiv.org/content/10.6... Using gnomAD v4, we estimate per-variant missense selection coefficients, and find loss-of-function (LoF) mutations with enhanced mutation rates.
Inference of elevated mutation rates and variant effects using 700k exomes
Genomic sequencing is now widely accessible for genetic diagnostics and is emerging as a component of newborn screening. This technological development generates the need to characterize incoming muta...
biorxiv.org