Autism Risk-Factors Identified in ‘Dark Matter’ of Human Genome

Using cutting-edge statistical models to analyze data from nearly 2,000 families with an autistic child, a multi-institute research team discovered tens of thousands of rare mutations in noncoding DNA sequences and assessed if these contribute to autism spectrum disorder. Published Dec. 14 in the journal Science, the study is the largest to date for whole-genome sequencing in autism. Kathryn Roeder, UPMC Professor of Statistics and Life Sciences in the Statistics and Data Science and Computational Biology departments, was among research team leaders. Lead authors include Kevin Lin and Lingxue Zhu of the Department of Statistics and Data Science.