disease causing variants

Many human diseases are caused by genetic variants in our genome. Identifying disease-related variants is usually the first step towards mechanistic research and treatment design. However, the research to date has tended to focus on small variants in well-annotated parts of the genome, such as single nucleotide variations (SNVs) and small insertions & deletions (INDELs) in protein-coding regions and a few non-coding regulatory sites. In contrast, for human disease research, much less is known about the role of structural variations (SVs) including CNVs, or variants inside difficult genomic regions, such as most non-coding and repetitive DNAs. Thus, we want to conduct a comprehensive search for disease-related genetic variants at all scales and across the entire genome. New disease-related variants identified here can serve as the basis of future functional genomics projects and they may also represent new opportunities for precision medicine.