Monday, March 30, 2020

ASHG PacBio Workshop: Highlighting unexplored genomic regions with SMRT Sequencing – informatics for structural event detection in PacBio

Ali Bashir from the Icahn Institute for Genomics and Multiscale Biology at Mount Sinai describes a tool to detect tandem repeats (PACMonSTR), which he believes are dramatically underrepresented in the human genome reference but that can be discovered with PacBio sequencing. In a collaboration with Cold Spring Harbor Laboratory and Cornell, Bashir and his team generated shotgun, whole-genome sequence data from human genomic DNA using PacBio sequencing. Their goal was to find structural variation features that are not present in the existing reference. He shows numerous examples wherein the long PacBio reads were able to resolve inversions in the sample,…

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