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McKelvey School of Engineering

Computational Genomics for Congenital Disorder Research

Friday, December 3, 2021 | 11:00 AM - 12:00 PM

Stephen F. & Camilla T. Brauer Hall, Brauer 12
6548 Forest Park Pkwy, St. Louis, MO 63112, USA

Dr. Sheng Chih (Peter) Jin
Assistant Professor of Genetics and Pediatrics, Washington University School of Medicine

Congenital disorders, also known as birth defects, are conditions present from birth. The sporadic nature of most congenital disorders has limited the utility of traditional genetic approaches in the past. Advances in next-generation sequencing have discovered the genetic causes of a large proportion of patients with congenital disorders. Despite remarkable progress in the identification of genes and pathways involved in congenital disorders, the cause of most cases remains elusive. It is becoming evident in the field that simple genetic models do not entirely explain the causes of all congenital disorders and more nuanced approaches are required. This talk discusses the challenges in identifying genetic causes from genomic data. I will also present several of our recent work that aims to determine the complex genetic basis of congenital disorders using the large-scale integrative analysis of omics data.

Event Type



McKelvey School of Engineering


Science & Technology

Computer Science & Engineering
Event Contact


Speaker Information

Dr. Jin is a human geneticist with an independent research lab at the Washington University School of Medicine in the Department of Genetics. His scientific training includes his PhD work with Drs. Alison Goate and Carlos Cruchaga, in which he performed deep sequencing in candidate Alzheimer’s disease (AD) genes, analyzed AD-related endophenotypes, and performed in vitro cell-based experiments to identify and functionally characterize novel genetic variants affecting AD risk. As a postdoctoral fellow in the lab of Dr. Richard Lifton, he developed novel statistical models and bioinformatic pipelines to reveal the contribution of rare transmitted and de novo mutations on congenital heart disease risk.
More recently, he shifted his focus to reveal genetic etiologies of neurodevelopmental disorders. Working with multi-site genomics consortia, he and his colleagues identified novel genes and biological pathways contributing to congenital hydrocephalus, idiopathic cerebral palsy, Vein of Galen malformation, Moyamoya disease, Chiari malformation, and Arachnoid Cyst. His current research is devoted to progressing the understanding of complex genetic models driving neurodevelopmental and cardiovascular disorders and to characterizing genetic networks of disease via multi-dimensional -omics data, biobank sources, and electronic health record data. He utilizes a multidisciplinary approach that reflects his training in biostatistics, human genetics, and genomics. His overall goal is to translate advances in basic science into novel targeted therapeutics for congenital and neurodegenerative diseases.

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