Prof.Yao Yang

Issuing time:2021-09-17 16:29

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Name:

Yao   Yang

Title:

Clinical Assistant Professor

Affiliation:

Stanford University School of Medicine

Email:

yaoy@stanford.edu

100-word   biography:

Dr. Yao Yang is a Clinical Assistant Professor   in pathology at Stanford University School of Medicine. He serves as   associate director of Stanford Clinical Genomics Laboratory. Dr. Yang is an   American Board of Genetics and Genomics certificated clinical molecular   geneticist. His interests in molecular genetics began during his PhD training   at Southeast University. After finished his fellowship at Icahn School of Medicine   at Mount Sinai, he moved to Columbia University as an Assistant Professor in   Pathology and assistant director of Precision Genomics Laboratory. In   addition to his clinical focus in genetic testing, Dr. Yang continues   research in pharmacogenetics and bioinformatics.

Title:

Application of Long-read Sequencing in Pharmacogenetics Research and   Clinical Genetic Testing

Abstract:

To date, the Pharmacogene Variation   (PharmVar) Consortium has catalogued a few hundred of star (*) alleles in 23   pharmacogenetic genes; however, determining the phase of some of these   pharmacogenetic sequence variants for accurate diplotype assignment is not   feasible by short-read sequencing or targeted genotyping. In addition, genes   associated with human diseases with homologous regions in the genome are   still challenging for short-read/genotype technologies due to the unspecific   enrichment/priming and false alignment. Long-read sequencing technologies   have been emerged as effective solutions for previously defined short-reads/Sanger   dead zones and complicated structure variants of the human genome. We applied   long-read sequencing to pharmacogenetic genes and challenging Mendelian   disease genes, and demonstrated the high accuracy and reproducibility, which   underscore the utility of long-read sequencing in these genes with high   complexity.

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