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

Valente, EM; Bhatia, KP; (2018) Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key. [Editorial comment]. Cell , 172 (5) pp. 889-891. 10.1016/j.cell.2018.02.022. Green open access

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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.

Type: Article
Title: Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.cell.2018.02.022
Publisher version: http://doi.org/10.1016/j.cell.2018.02.022
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/10049851
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