ASD 2018 - Analysis of sequencing data

Large Whole Exome and Genome Sequence (WES, WGS) data are becoming available for the biomedical community through NHLBI and NHGRI studies such as TOPMed and CCDG. These studies collected more than WGS from more than 100,000 each, with individuals contributed from multiple, existing, epidemiological studies, representing genetically and environmentally diverse populations. Because the goal of WGS studies are to identify rare variants association with health outcomes, these heterogeneous data have to be analyzed together. This represent new challenges due to their inherent heterogeneity, that was not seen earlier, when genetic association studies analyzed diverse populations separately, and later combined them in meta-analysis.
In this workshop, we will introduce the challenges and pitfalls in analyzing large sequencing data sets, and analysis approaches that address these challenges. At the end of the workshop, attenders will be familiar with these challenges, with a few software packages and how they address them, and will know how to look at the scientific literature to form a specific plan to analyze their own data, based on their specific structure and goals.