Jump to Main Content
Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key
- Valente, Enza Maria, Bhatia, Kailash P.
- Cell 2018 v.172 pp. 889-891
- genes, genomics, mutation, transcriptomics
- 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.