Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.


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… (More)
DOI: 10.1016/j.ajhg.2015.11.023



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