A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia

Nat Med. 2020 Sep;26(9):1375-1379. doi: 10.1038/s41591-020-1007-0. Epub 2020 Aug 10.

Abstract

The promise of precision medicine lies in data diversity. More than the sheer size of biomedical data, it is the layering of multiple data modalities, offering complementary perspectives, that is thought to enable the identification of patient subgroups with shared pathophysiology. In the present study, we use autism to test this notion. By combining healthcare claims, electronic health records, familial whole-exome sequences and neurodevelopmental gene expression patterns, we identified a subgroup of patients with dyslipidemia-associated autism.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / diagnosis*
  • Autistic Disorder / genetics
  • Autistic Disorder / pathology
  • Dyslipidemias / diagnosis*
  • Dyslipidemias / genetics
  • Dyslipidemias / pathology
  • Electronic Health Records
  • Exome / genetics
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Lipids / blood
  • Male
  • Molecular Diagnostic Techniques
  • Precision Medicine / methods*
  • Whole Exome Sequencing

Substances

  • Lipids