Article
Return of genetic research results in 21,532 individuals with autism.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2024
Wright Jessica R, Astrovskaya Irina, Barns Sarah D, Goler Alexandra, Zhou Xueya, Shu Chang, Snyder LeeAnne Green, Han Bing, Shen Yufeng, Volfovsky Natalia, Hall Jacob B, Feliciano Pamela, Chung Wendy K
Abstract excerpt
PURPOSE: The aim of this study is to identify likely pathogenic (LP) and pathogenic (P) genetic results for autism that can be returned to participants in SPARK (SPARKforAutism.org): a large recontactable cohort of people with autism in the United States. We also describe the process to return these clinically confirmed genetic findings. METHODS: We present results from microarray genotyping and exome sequencing...
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