Ricardo De Paoli-Iseppi
Long-read sequencing of neuropsychiatric disorder risk gene isoforms in the human brain
How are genes identified by GWAS actually affecting neuropsychiatric patients? Team set out to examine RNA splicing and transcript abundance to find proteins with varying function.
Nanopore sequencing of brain samples identified candidate novel exons and isoforms for several neuropsychiatric risk genes including GRIA1 and SNAP91.
Future work includes incorporating UMIs into cDNA sequencing, validating novel exons and isoforms, and determining if their expression impacts protein abundance and function.