Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key.
editorial · Level V
Where this comes from
- Record sourced from PubMed, PMID 29474915.
- Also identified by DOI 10.1016/j.cell.2018.02.022.
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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.
Medical subject headings
- Dystonic Disorders
- Transcriptome