I am currently the NGS sequencing core Manager/Research Investigator and member of the McCombie lab at Cold Spring Harbor Laboratory. I work in developing and adapting new technologies for Next-Generation sequencing routines and other applications. During my time here I have developed optimizations for the Pacific Biosciences RS instrument for large genome sequencing, evaluated rational pooling schemes for large cohort sequencing on Ilumina platforms, and I have developed applications for sequencing and error corrections on the Oxford Nanopore MinIon. Currently I am using optical mapping strategies to evaluation long structural variants in in cancer lines and Oxford Nanopore for CNV detection in clinical samples.
Location: United States