Article
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
American journal of human genetics - 7 Jan 2016
Turner Tychele N, Hormozdiari Fereydoun, Duyzend Michael H, McClymont Sarah A, Hook Paul W, Iossifov Ivan, Raja Archana, Baker Carl, Hoekzema Kendra, Stessman Holly A, Zody Michael C, Nelson Bradley J, Huddleston John, Sandstrom Richard, Smith Joshua D, Hanna David, Swanson James M, Faustman Elaine M, Bamshad Michael J, Stamatoyannopoulos John, Nickerson Deborah A, McCallion Andrew S, Darnell Robert, Eichler Evan E
Abstract excerpt
We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected by simplex autism. For the majority of these families, no copy-number variant (CNV) or candidate de novo gene-disruptive single-nucleotide variant (SNV) had been detected by microarray or whole-exome sequencing (WES). We integrated multiple CNV and SNV analyses and extensive experimental validation to identify additional candidate...
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