NIH R01 · 2024
Discovering Splicing Defects in Human Genes
Project Summary / Abstract The equipment supplement seeks to acquire a PromethION 24 long read sequencer to increase the impact of the award grant. The parent proposal presented a pilot screen of more than 32K variants from myCode and ClinVar that suggest 1-2% of exonic mutations affect splicing. The pilot study also revealed that splicing mutations are not uniformly distributed across disease genes or even within genes. This proposal will continue this effort on variants from UK biobank, AllofUs, ClinVar and GTEx that localize to actionable genes. Splicing mutations do not occur uniformly across exons. The proposal seeks to map susceptibility to splicing mutations and identify hotspot…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.