NIH R01 · 2024
HIGHLY PARALLEL ANALYSIS OF 5' AND 3' UTR VARIANTS IN NEURODEVELOPMENTAL DISORDERS
ABSTRACT Substantial investments are being made to sequence the genomes of families with autism and other neurodevelopmental disorders (NDD). However, identifying disease mutations outside the ~1% of protein coding sequences is challenging because 1) the ‘search space’ is much larger, and thus many more mutations occur by chance, and 2) there is no simple code to identify deleterious mutations in non-coding sequences, and thus loss of function mutations must be defined experimentally. In addition, the consequences of mutations in non-coding (i.e. regulatory) sequences are often highly dependent on the specific cell type. Thus, functional assays must be conducted in vivo, in the appropriate…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.