PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

March 2015

Min Wang, Christine R Beck, Adam C English, Qingchang Meng, Christian Buhay, Yi Han, Harsha V Doddapaneni, Fuli Yu, Eric Boerwinkle, James R Lupski, Donna M Muzny and Richard A Gibbs

In this BMC Genomics publication, scientists from Baylor College of Medicine report a new method for targeted sequencing of important structural variations in the human genome with the PacBio platform. Using oligo-based DNA capture with Pippin Prep or BluePippin sizing from Sage Science, the researchers demonstrated successful structural variant analysis at high accuracy and low cost.

Wang et al. BMC Genomics (2015) 16:214
DOI 10.1186/s12864-015-1370-2

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