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. |
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. |
