@article{4019d7674d07446cb57249e6c593da40,
title = "A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia",
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.",
author = "Yuan Luo and Alal Eran and Nathan Palmer and Paul Avillach and Ami Levy-Moonshine and Peter Szolovits and Kohane, {Isaac S.}",
note = "Funding Information: Data analyzed in this manuscript reside in the National Institutes for Health (NIH)-supported NIMH Data Archive{\textquoteright}s NDAR as Collection nos. 1918, 2004 and 2042. We thank all the families at the participating Simons Simplex Collection sites, as well as the principal investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren and E. Wijsman). We thank SFARI Base for access to their phenotypic data. Approved researchers can obtain the Simons Simplex Collection population dataset described in the present study (https://base.sfari.org/ordering/phenotype/sfari-phenotype/download?code=11) by applying at https://base.sfari.org. We thank J. Eichler, D. Margulies and members of the Kohane lab for fruitful discussions. We thank somersault18:24 (www.somersault1824. com) for illustrations. Y.L. was supported by the US National Institutes of Health (1R21LM012618 and 5UL1TR001422). A.E., P.S. and I.S.K. were supported by the National Institute of Mental Health (P50MH106933). A.E. was supported by the Israeli Ministry of Science and Technology (grant no. 17708) and by the PrecisionLink Initiative at BCH. N.P. received funding support from Aetna Life Insurance Co. P.A. was supported by the US National Institutes of Health (U01HG007530, OT3OD025466, OT3HL142480, U54HG007963, 1U01TR002623-01 and 1U54HD090255-01). Publisher Copyright: {\textcopyright} 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.",
year = "2020",
month = sep,
day = "1",
doi = "10.1038/s41591-020-1007-0",
language = "English (US)",
volume = "26",
pages = "1375--1379",
journal = "Nature Medicine",
issn = "1078-8956",
publisher = "Nature Publishing Group",
number = "9",
}