DOI: 10.1126/science.aat6576 year: 2019 study: Capstone Collection title: Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. grants: U01MH103340 P50MH106934 UO1MH103339 U01MH103346 R21MH103877 U01MH103392 U01MH103392 U01MH103365 R01MH094714 U01MH103339 authors: An J, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, Klei L, Liang L, Markenscoff-Papadimitriou E, Pochareddy S, Ahituv N, Buxbaum JD, Coon H, Daly MJ, Kim YS, Marth GT, Neale BM, Quinlan AR, Rubenstein JL, Sestan N, State MW, Willsey AJ, Talkowski ME, Devlin B, Roeder K, Sanders SJ journal: Science (New York N.Y.) abstract: Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding functional annotation category, analyzed in isolation, was significantly associated wit pubmedId: 30545852 entity_name: An Science (New York N.Y.) 2019 (Pubmed ID 30545852)
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