Open AccessSolving Mendelian Mysteries: The Non-coding Genome May Hold the Key
Author(s) -
Enza Maria Valente,
Kailash P. Bhatia
Publication year - 2018
Publication title -
cell
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 26.304
H-Index - 776
eISSN - 1097-4172
pISSN - 0092-8674
DOI - 10.1016/j.cell.2018.02.022
Subject(s) - biology , mendelian inheritance , key (lock) , genome , genetics , computational biology , evolutionary biology , gene , ecology
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.
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