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Comment
. 2018 Feb 22;172(5):889-891.
doi: 10.1016/j.cell.2018.02.022.

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

Enza Maria Valente  1 , Kailash P Bhatia  2
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Comment

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

Enza Maria Valente et al. Cell. .
Free article

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.

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  • Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
    Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Aneichyk T, et al. Cell. 2018 Feb 22;172(5):897-909.e21. doi: 10.1016/j.cell.2018.02.011. Cell. 2018. PMID: 29474918 Free PMC article.

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