Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key

Cell
Enza Maria Valente, Kailash P Bhatia

Abstract

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.

Citations

Apr 4, 2020·PLoS Genetics·Duo XuEkta Khurana

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