Solving mendelian mysteries: the non-coding genome may hold the key

• Autores: E. M. Valente, Kailash P. Bhatia
• Localización: Cell, ISSN 0092-8674, Vol. 172, Nº. 5, 2018, págs. 889-891
• Idioma: inglés
• Enlaces
  • Texto completo
• Resumen

  • 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.