Sharing parental genomes by siblings concordant or discordant for autism

Wroten, Mathew, Yoon, Seungtai, Andrews, Peter, Yamrom, Boris, Ronemus, Michael, Buja, Andreas, Krieger, Abba M, Levy, Dan, Ye, Kenny, Wigler, Michael, Iossifov, Ivan (June 2023) Sharing parental genomes by siblings concordant or discordant for autism. Cell Genomics, 3 (6). p. 100319. ISSN 2666-979X (Public Dataset)

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Abstract

Studying thousands of families, we find siblings concordant for autism share more of their parental genomes than expected by chance, and discordant siblings share less, consistent with a role of transmission in autism incidence. The excess sharing of the father is highly significant (p value of 0.0014), with less significance for the mother (p value of 0.31). To compare parental sharing, we adjust for differences in meiotic recombination to obtain a p value of 0.15 that they are shared equally. These observations are contrary to certain models in which the mother carries a greater load than the father. Nevertheless, we present models in which greater sharing of the father is observed even though the mother carries a greater load. More generally, our observations of sharing establish quantitative constraints that any complete genetic model of autism must satisfy, and our methods may be applicable to other complex disorders.

Item Type: Paper
Subjects: diseases & disorders
diseases & disorders > mental disorders
diseases & disorders > mental disorders > personality disorders
diseases & disorders > mental disorders > personality disorders > autism
CSHL Authors:
Communities: CSHL labs > Iossifov lab
CSHL labs > Levy lab
CSHL labs > Wigler lab
CSHL labs > Yoon lab
SWORD Depositor: CSHL Elements
Depositing User: CSHL Elements
Date: 14 June 2023
Date Deposited: 18 Sep 2023 18:14
Last Modified: 11 Jan 2024 14:50
PMCID: PMC10300587
Related URLs:
Dataset ID:
  • SFARI: 229125
URI: https://repository.cshl.edu/id/eprint/40901

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