Nature Communications (Nov 2019)

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

  • Alex Wells,
  • David Heckerman,
  • Ali Torkamani,
  • Li Yin,
  • Jonathan Sebat,
  • Bing Ren,
  • Amalio Telenti,
  • Julia di Iulio

DOI
https://doi.org/10.1038/s41467-019-13212-3
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 9

Abstract

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Whole genome sequencing (WGS) holds promise to solve a subset of Mendelian disease cases for which exome sequencing did not provide a genetic diagnosis. Here, Wells et al. report a supervised machine learning model trained on functional, mutational and structural features for rank-scoring and interpreting variants in non-coding regions from WGS.