P662: Estimating UK Biobank population-specific PGx allele and phenotype frequencies using PharmCAT

by Katrin Sangkuhl, Ryan Whaley, Mark Woon, Karl Keat, Li Gong, Michelle Whirl-Carrillo, Marylyn Ritchie, Teri Klein
Published 2023-01-01

Transfer learning enables prediction of CYP2D6 haplotype function.

by Gregory McInnes, Rachel Dalton, Katrin Sangkuhl, Michelle Whirl-Carrillo, Seung-Been Lee, Philip S Tsao, Andrea Gaedigk, Russ B Altman, Erica L Woodahl
Published 2020-11-01

Variant Interpretation in Current Pharmacogenetic Testing

by Sally Luvsantseren, Michelle Whirl-Carrillo, Katrin Sangkuhl, Nancy Shin, Alice Wen, Philip Empey, Benish Alam, Sean David, Henry M. Dunnenberger, Lori Orlando, Russ Altman, Latha Palaniappan
Published 2020-10-01

Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population

by Shefali S. Verma, Karl Keat, Binglan Li, Glenda Hoffecker, Marjorie Risman, Regeneron Genetics Center, Katrin Sangkuhl, Michelle Whirl-Carrillo, Scott Dudek, Anurag Verma, Teri E. Klein, Marylyn D. Ritchie, Sony Tuteja
Published 2022-11-01

Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Gr...

by Kelly E. Caudle, Katrin Sangkuhl, Michelle Whirl‐Carrillo, Jesse J. Swen, Cyrine E. Haidar, Teri E. Klein, Roseann S. Gammal, Mary V. Relling, Stuart A. Scott, Daniel L. Hertz, Henk‐Jan Guchelaar, Andrea Gaedigk
Published 2020-01-01

P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*

by Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm
Published 2024-01-01

P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

by Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm
Published 2023-01-01

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

by Frederick E Dewey, Rong Chen, Sergio P Cordero, Kelly E Ormond, Colleen Caleshu, Konrad J Karczewski, Michelle Whirl-Carrillo, Matthew T Wheeler, Joel T Dudley, Jake K Byrnes, Omar E Cornejo, Joshua W Knowles, Mark Woon, Katrin Sangkuhl, Li Gong, Caroline F Thorn, Joan M Hebert, Emidio Capriotti, Sean P David, Aleksandra Pavlovic, Anne West, Joseph V Thakuria, Madeleine P Ball, Alexander W Zaranek, Heidi L Rehm, George M Church, John S West, Carlos D Bustamante, Michael Snyder, Russ B Altman, Teri E Klein, Atul J Butte, Euan A Ashley
Published 2011-09-01

Association of the Polygenic Scores for Personality Traits and Response to Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder

by Azmeraw T. Amare, Klaus Oliver Schubert, Klaus Oliver Schubert, Fasil Tekola-Ayele, Yi-Hsiang Hsu, Yi-Hsiang Hsu, Yi-Hsiang Hsu, Katrin Sangkuhl, Gregory Jenkins, Ryan M. Whaley, Poulami Barman, Anthony Batzler, Russ B. Altman, Volker Arolt, Jürgen Brockmöller, Chia-Hui Chen, Katharina Domschke, Daniel K. Hall-Flavin, Chen-Jee Hong, Chen-Jee Hong, Ari Illi, Yuan Ji, Olli Kampman, Olli Kampman, Toshihiko Kinoshita, Esa Leinonen, Esa Leinonen, Ying-Jay Liou, Ying-Jay Liou, Taisei Mushiroda, Shinpei Nonen, Michelle K. Skime, Liewei Wang, Masaki Kato, Yu-Li Liu, Verayuth Praphanphoj, Julia C. Stingl, William V. Bobo, Shih-Jen Tsai, Shih-Jen Tsai, Michiaki Kubo, Teri E. Klein, Richard M. Weinshilboum, Joanna M. Biernacka, Joanna M. Biernacka, Bernhard T. Baune
Published 2018-03-01