Department of Statistics Unitmark
Dietrich College of Humanities and Social Sciences
January 16, 2019, 11:13AM

A multi-institute research team, which includes Carnegie Mellon Dept. of Statistics & Data Science faculty and graduate students, has published the largest study to date for whole-genome sequencing in autism in which they discovered tens of thousands of rare mutations in noncoding DNA sequences and assessed if these contribute to autism spectrum disorder.

Kathryn Roeder, the UPMC Professor of Statistics and Life Sciences, and Ph.D. students Kevin Lin and Lingxue Zhu, were among the researchers who used cutting-edge statistical models to analyze data from 1,902 families comprised of both biological parents, a child affected by autism and an unaffected sibling.

Entitled “Genome-wide de Novo Risk Score Implicates Promoter Variation in Autism Spectrum Disorder,” and published Dec. 14 in Science, the study is one of 13 released Dec. 14 as part of the first round of results to emerge from the National Institute of Mental Health’s PsychENCODE consortium – a nationwide research effort that seeks to decipher how noncoding DNA contributes to psychiatric diseases such as autism, bipolar disorder, and schizophrenia.

For years, scientists have...

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