[PDF][PDF] Solving Mendelian mysteries: the non-coding genome may hold the key

EM Valente, KP Bhatia - Cell, 2018 - cell.com
Cell, 2018cell.com
Despite revolutionary advances in sequencing approaches, many mendelian disorders
have remained unexplained. In this issue of Cell, Aneichyk et al. combine genomic and cell-
type-specific transcriptomic data to causally link a non-coding mutation in the ubiquitous
TAF1 gene to X-linked dystonia-parkinsonism.
Despite revolutionary advances in sequencing approaches, many mendelian disorders have remained unexplained. In this issue of Cell, Aneichyk et al. combine genomic and cell-type-specific transcriptomic data to causally link a non-coding mutation in the ubiquitous TAF1 gene to X-linked dystonia-parkinsonism.
cell.com