Whole-genome Analysis of Autism by Pacific Biosciences HiFi genome sequencing

Using new 3rd-generation DNA sequencing technologies, it is now possible to perform complete assembly of chromosomes from telomere to telomere.  This project will investigate new categories of genetic variation that are detectable using the PacBio Sequel II whole genome sequencing (WGS) platform that are not detectable by traditional Illumina WGS, including structural variants (SVs) and tandem repeats (TRs). The trainee on this project will become familiar with basic tools for long read HiFi sequence analysis and will innovate upon current statistical genetic methods to investigate the association of SVs and TRs with disease with a focus on genes located within new regions of the human genome that have recently been assembled.