Publications

Featured Publications

Efficient de novo assembly of eleven human genomes using PromethION sequencing and a novel nanopore toolkit

Present workflows for producing human genome assemblies from long-read technologies have cost and production time bottlenecks that prohibit efficient scaling to large cohorts. We demonstrate an optimized PromethION nanopore sequencing method for eleven human genomes. The sequencing, performed on one machine in nine days, achieved an average 63x coverage, 42 Kb read N50, 90% median…
Barriers to accessing public cancer genomic data

Katrina Learned, ann Durbin, Robert Currie , Ellen towle Kephart, Holly C. Beale, Lauren M. Sanders, Jacob Pfeil, theodore C. Goldstein, Sofie R. Salama, David Haussler, Olena Morozova Vaske & Isabel M. Bjork. Although increasingly recognized as critical to genomic research, genomic data sharing is hindered by an absence of standards regarding timing, patient privacy,…
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

Article | PLoS Genetics| Published: 26 Dec 2018 Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman…