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Autism Study Retraces Parental Sequence Sharing, Sources in Affected Families

In Cell Genomics, researchers from Cold Spring Harbor Laboratory, the University of Pennsylvania, and elsewhere consider models that may explain distinct parental sequence sharing patterns in siblings with autism spectrum disorder (ASD) and those without. Based on array-based genotyping profiles, whole-genome sequences, and haplotype patterns for some 5,800 simplex or multiplex families enrolled in efforts such as the Simons Simplex Collection, the Autism Genetic Repository Exchange, or the SPARK collection, the team found that autism-concordant siblings have higher-than-anticipated parental genome sharing, particularly when it came to sequences inherited from their father. On the other hand, in discordant sibling sets where one child has ASD and their sibling or siblings did not, they saw dialed down parental sequence sharing. "These observations are contrary to certain models in which the mother carries a greater load than the father," the authors report. "Nevertheless, we present models in which greater sharing of the father is observed even though the mother carries a greater load."