The ideal genome sequence for medical interpretation is complete and diploid, capturing the full spectrum of genetic variation. Toward this end, there has been progress in discovery of single nucleot
Copy number variants (CNVs) are a major source of genetic variation in human health and disease. Previous studies have suggested replication stress, such as that caused by the polymerase inhibitor ap
These reads were generated with the hopes of being able to leverage long read technology to characterize and resolve large structural variation in currently understudied populations.
