Friday, 17 September 2021
Recently, long-read sequencing with high accuracy has become a reality. Previous technologies allowed for the detection of particular classes of genetic variation and/or have focused on pre-defined regions of the genome. De novo assembly of an individual’s complete genome has also been difficult and time-intensive with the drastically shorter reads that have been the standard in our field. Long-read sequencing is a ground-breaking advance that enables us to perform analyses to assemble genomes within one day and to detect nearly all forms of variation in one single technology.
Dr. Tychele Turner is a geneticist / genomicist with a deep interest in understanding the genetic architecture of human disease. Currently, Dr. Turner is an Assistant Professor in the Department of Genetics at Washington University School of Medicine in St. Louis, Missouri. Her lab is focused on the genomics of neurodevelopmental disorders, optimization of genomic workflows, and application of novel genomic technologies to understand disease.
In this webinar, Dr. Turner will discuss her lab’s application of PacBio HiFi long-read sequencing to human genetics. She will describe both general characteristics of the data and then discuss her team's application of PacBio HiFi sequencing to both 9p minus syndrome and autism. In particular, for the lab's study of autism, she will show how a SMRT grant from PacBio enabled them to solve a previously unsolved family.
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Tychele Turner, Ph.D.
Washington University in St. Louis