Read Clouds Uncover Variation in Complex Regions of the Human Genome

Alex Bishara, Yuling Liu, Dorna Kashef Haghighi, Ziming Weng, Daniel E. Newburger, Robert B. West, Arend Sidow, Serafim Batzoglou

Abstract: The rapid advance of next-generation sequencing (NGS) technologies has decreased the cost of genomic sequencing dramatically, enabling accurate variant discovery across whole genomes of many individuals. Current large-scale and cost-effective resequencing platforms produce reads of limited length, and as a result, reliable identification of variants within highly homologous regions of a target genome remains challenging.