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Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

Authors :
Ada J. S. Chan
Worrawat Engchuan
Miriam S. Reuter
Zhuozhi Wang
Bhooma Thiruvahindrapuram
Brett Trost
Thomas Nalpathamkalam
Carol Negrijn
Sylvia Lamoureux
Giovanna Pellecchia
Rohan V. Patel
Wilson W. L. Sung
Jeffrey R. MacDonald
Jennifer L. Howe
Jacob Vorstman
Neal Sondheimer
Nicole Takahashi
Judith H. Miles
Evdokia Anagnostou
Kristiina Tammimies
Mehdi Zarrei
Daniele Merico
Dimitri J. Stavropoulos
Ryan K. C. Yuen
Bridget A. Fernandez
Stephen W. Scherer
Source :
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
Publication Year :
2022
Publisher :
Nature Portfolio, 2022.

Abstract

Morphological subtypes of autism spectrum disorder (ASD) may differ in their genetic bases. Chan et al. develop a method for calculating a patient-level, genome-wide rare variant score and find significant differences in rare and common variant associations between dysmorphic and nondysmorphic ASD groups.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
13
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.ff05382e894c1ca9c8df1af30b6dc7
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-022-34112-z