Ontology highlight
ABSTRACT:
SUBMITTER: Feliciano P
PROVIDER: S-EPMC6707204 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Feliciano Pamela P Zhou Xueya X Astrovskaya Irina I Turner Tychele N TN Wang Tianyun T Brueggeman Leo L Barnard Rebecca R Hsieh Alexander A Snyder LeeAnne Green LG Muzny Donna M DM Sabo Aniko A Gibbs Richard A RA Eichler Evan E EE O'Roak Brian J BJ Michaelson Jacob J JJ Volfovsky Natalia N Shen Yufeng Y Chung Wendy K WK
NPJ genomic medicine 20190823
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set of genetic risk factors. We conducted a pilot study for SPARK (SPARKForAutism.org) of 457 families with ASD, all consented online. Whole exome sequencing (WES) and genotyping data were generated for each family using DN ...[more]