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Webinar: Biostatistics and Bioinformatics Seminar – ‘Inferring pathogenic variants and disease genes through the lens of human population genomics’

November 3, 2021, 12:00 pm to 1:00 pm

Presented by: Yifei Huang, PhD, assistant professor of biology, Department of Biology, Penn State University.

About the presentation: Being able to predict pathogenic variants and disease genes will dramatically improve our ability to elucidate the genetic basis of human disease. Numerous supervised machine learning methods have been recently developed to prioritize disease-related variants and genes; however, the existing methods suffer from limited predictive power due to the scarcity of training data. Here we present a suite of unsupervised machine learning models for predicting deleterious variants and constrained genes from large-scale population genomic data. Our methods show unmatched performance in predicting known pathogenic variants and disease genes with a dominant mode of inheritance. Also, deleterious de novo mutations predicted by our methods show a dramatic enrichment in probands affected by severe developmental disorders. Altogether, our population genetics-based machine learning models are powerful tools to aid in the prioritization of variants and genes.

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To join via the phone, dial 929-205-6099

Meeting ID 948 6098 2030 and passcode 320367


November 3, 2021
12:00 pm to 1:00 pm
Event Category:


Department of Public Health Sciences
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