Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome

by Paul A. Dawson, Soohyun Lee, Adam D. Ewing, Johannes B. Prins, Helen S. Heussler
Published 2020-06-01

Long-read cDNA sequencing identifies functional pseudogenes in the human transcriptome

by Robin-Lee Troskie, Yohaann Jafrani, Tim R. Mercer, Adam D. Ewing, Geoffrey J. Faulkner, Seth W. Cheetham
Published 2021-05-01

Germline contamination and leakage in whole genome somatic single nucleotide variant detection

by Dorota H. Sendorek, Cristian Caloian, Kyle Ellrott, J. Christopher Bare, Takafumi N. Yamaguchi, Adam D. Ewing, Kathleen E. Houlahan, Thea C. Norman, Adam A. Margolin, Joshua M. Stuart, Paul C. Boutros
Published 2018-01-01

Retrotransposon instability dominates the acquired mutation landscape of mouse induced pluripotent stem cells

by Patricia Gerdes, Sue Mei Lim, Adam D. Ewing, Michael R. Larcombe, Dorothy Chan, Francisco J. Sanchez-Luque, Lucinda Walker, Alexander L. Carleton, Cini James, Anja S. Knaupp, Patricia E. Carreira, Christian M. Nefzger, Ryan Lister, Sandra R. Richardson, Jose M. Polo, Geoffrey J. Faulkner
Published 2022-12-01

Combining accurate tumor genome simulation with crowdsourcing to benchmark somatic structural variant detection

by Anna Y. Lee, Adam D. Ewing, Kyle Ellrott, Yin Hu, Kathleen E. Houlahan, J. Christopher Bare, Shadrielle Melijah G. Espiritu, Vincent Huang, Kristen Dang, Zechen Chong, Cristian Caloian, Takafumi N. Yamaguchi, ICGC-TCGA DREAM Somatic Mutation Calling Challenge Participants, Michael R. Kellen, Ken Chen, Thea C. Norman, Stephen H. Friend, Justin Guinney, Gustavo Stolovitzky, David Haussler, Adam A. Margolin, Joshua M. Stuart, Paul C. Boutros
Published 2018-11-01

L1 Retrotransposon Heterogeneity in Ovarian Tumor Cell Evolution

by Thu H.M. Nguyen, Patricia E. Carreira, Francisco J. Sanchez-Luque, Stephanie N. Schauer, Allister C. Fagg, Sandra R. Richardson, Claire M. Davies, J. Samuel Jesuadian, Marie-Jeanne H.C. Kempen, Robin-Lee Troskie, Cini James, Elizabeth A. Beaven, Tristan P. Wallis, Jermaine I.G. Coward, Naven P. Chetty, Alexander J. Crandon, Deon J. Venter, Jane E. Armes, Lewis C. Perrin, John D. Hooper, Adam D. Ewing, Kyle R. Upton, Geoffrey J. Faulkner
Published 2018-06-01