Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

by Emily Olfson, Catherine E Cottrell, Nicholas O Davidson, Christina A Gurnett, Jonathan W Heusel, Nathan O Stitziel, Li-Shiun Chen, Sarah Hartz, Rakesh Nagarajan, Nancy L Saccone, Laura J Bierut
Published 2015-01-01

Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads

by Charlotte A. Darby, James R. Fitch, Patrick J. Brennan, Benjamin J. Kelly, Natalie Bir, Vincent Magrini, Jeffrey Leonard, Catherine E. Cottrell, Julie M. Gastier-Foster, Richard K. Wilson, Elaine R. Mardis, Peter White, Ben Langmead, Michael C. Schatz
Published 2019-08-01

Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma

by Kathleen M. Schieffer, Alexander Z. Feldman, Esko A. Kautto, Sean McGrath, Anthony R. Miller, Maria Elena Hernandez-Gonzalez, Stephanie LaHaye, Katherine E. Miller, Daniel C. Koboldt, Patrick Brennan, Benjamin Kelly, Amy Wetzel, Vibhuti Agarwal, Margaret Shatara, Suzanne Conley, Diana P. Rodriguez, Rolla Abu-Arja, Ala Shaikhkhalil, Matija Snuderl, Brent A. Orr, Jonathan L. Finlay, Diana S. Osorio, Annie I. Drapeau, Jeffrey R. Leonard, Christopher R. Pierson, Peter White, Vincent Magrini, Elaine R. Mardis, Richard K. Wilson, Catherine E. Cottrell, Daniel R. Boué
Published 2021-04-01