Journal
NATURE MEDICINE
Volume 26, Issue 9, Pages -Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41591-020-1007-0
Keywords
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Funding
- National Institutes for Health (NIH) [2042, 1918, 2004]
- US National Institutes of Health [1R21LM012618, 5UL1TR001422, U01HG007530, OT3OD025466, OT3HL142480, U54HG007963, 1U01TR002623-01, 1U54HD090255-01]
- National Institute of Mental Health [P50MH106933]
- Israeli Ministry of Science and Technology [17708]
- PrecisionLink Initiative at BCH
- Aetna Life Insurance Co
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Integration of large datasets of familial whole-exome sequencing, neurodevelopmental gene expression, electronic health records and healthcare claims led to the identification of a subtype of autism spectrum disorder that is associated with lipid dysregulation. 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.
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