NIH R01 · 2024
Long-read genome sequencing for the discovery of highly penetrant variation in rare diseases
Project Summary/Abstract The goal of this proposal is to improve upon current methods to identify genetic contributors to rare diseases, especially neurodevelopmental disorders (NDDs) in children. Finding such variants is both of fundamental biological value and has potential clinical relevance to the affected individuals and their families. To improve upon current approaches, a DNA sequencing platform from Pacific Biosciences, called “HiFi”, will be used. Preliminary data suggest that HiFi can reveal disease-relevant genetic variants that were missed by standard genome sequencing approaches. Genomes of 500 affected individuals will be sequenced using HiFi, and for 200 of them, their…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.