Search Results - "Fowler DM"

New Pharmacogenomics Research Network: An Open Community Catalyzing Research and Translation in Precision Medicine

Relling, MV, Krauss, RM, Roden, DM, Klein, TE, Fowler, DM, Terada, N, Lin, L, Riel‐Mehan, M, Do, TP, Kubo, M, Yee, SW, Johnson, GT, Giacomini, KM

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Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.

Park MS; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA., Kumar RD; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Ovadiuc C; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA; Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Center, Seatle, WA, USA., Folta A; Division of Medical Genetics, University of Washington, Seattle, WA, USA., McEwen AE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Snyder A; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Villani RM; QIMR Berghofer, Brisbane, QLD, Australia., Spurdle AB; QIMR Berghofer, Brisbane, QLD, Australia; University of Queensland, Brisbane, QLD, Australia., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Department of Bioengineering, University of Washington, Seattle, WA, USA., Rubin AF; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Shirts BH; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Starita LM; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Electronic address: lstarita@uw.edu., Stergachis AB; Division of Medical Genetics, University of Washington, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Electronic address: absterga@uw.edu.

Journal Article , 2025

Consultation informs strategies for improving the use of functional evidence in variant classification.

Villani RM; QIMR Berghofer, Brisbane, QLD, Australia., Terrill B; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Clinical Translation and Engagement Platform, Garvan Institute of Medical Research, Sydney, NSW, Australia; Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia., Tudini E; QIMR Berghofer, Brisbane, QLD, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., McKenzie ME; QIMR Berghofer, Brisbane, QLD, Australia., Cliffe CC; Douglass Hanly Moir Pathology, Macquarie Park, NSW, Australia., Hahn CN; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Lundie B; Pathology Queensland, Queensland Health, Brisbane, QLD, Australia; The University of Queensland, Brisbane, QLD, Australia., Mattiske T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Australian Functional Genomics Network, Murdoch Children's Research Institute, Parkville, VIC, Australia., Matotek E; Australian Functional Genomics Network, Murdoch Children's Research Institute, Parkville, VIC, Australia., McEwen AE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute, Seattle, WA, USA., Nickerson SL; Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Perth, WA, Australia; The University of Western Australia, Perth, WA, Australia., Breen J; Black Ochre Data Labs (Indigenous Genomics), The Kids Research Institute Australia & Australian National University, Adelaide, SA, Australia; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute, Seattle, WA, USA; Department of Bioengineering, University of Washington, Seattle, WA, USA., Christodoulou J; Genomic Medicine Theme, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Starita L; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute, Seattle, WA, USA., Rubin AF; The Walter and Eliza Hall Institute of Medical Research, University of Melbourne, Melbourne, VIC, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia. Electronic address: alan.rubin@wehi.edu.au., Spurdle AB; QIMR Berghofer, Brisbane, QLD, Australia; The University of Queensland, Brisbane, QLD, Australia. Electronic address: amanda.spurdle@qimrb.edu.au.

Journal Article , 2025

Image-based identification and isolation of micronucleated cells to dissect cellular consequences.

DiPeso L; Basic Sciences Division, Fred Hutchinson Cancer Center, Seattle, United States.; Molecular & Cellular Biology, University of Washington, Seattle, United States., Pendyala S; Genome Sciences, University of Washington, Seattle, United States., Huang HZ; Basic Sciences Division, Fred Hutchinson Cancer Center, Seattle, United States., Fowler DM; Genome Sciences, University of Washington, Seattle, United States., Hatch EM; Basic Sciences Division, Fred Hutchinson Cancer Center, Seattle, United States.; Human Biology Division, Fred Hutchinson Cancer Center, Seattle, United States.

Journal Article , 2025

A complete map of human cytosolic degrons and their relevance for disease.

Voutsinos V, Johansson KE, Larsen FB, Grønbæk-Thygesen M, Jonsson N, Holm-Olesen E, Tesei G, Stein A, Fowler DM, Lindorff-Larsen K, Hartmann-Petersen R

Journal Article; Preprint , 2025

Multiplex, multimodal mapping of variant effects in secreted proteins.

Popp NA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Medical Scientist Training Program, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Powell RL; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Wheelock MK; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Holmes KJ; Division of Hematology and Oncology, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Center for Cardiovascular Biology, University of Washington School of Medicine, Seattle, WA, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA., Zapp BD; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Sheldon KM; Division of Hematology and Oncology, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Center for Cardiovascular Biology, University of Washington School of Medicine, Seattle, WA, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA., Fletcher SN; Bloodworks Northwest, Seattle, WA, USA., Wu X; Cell Marker Laboratory, Seattle Children's Hospital, Seattle, WA., Fayer S; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Rubin AF; Bioinformatics Division, WEHI, Parkville, VIC, AU.; Department of Medical Biology, University of Melbourne, Melbourne, VIC, AU., Lannert KW; Division of Hematology and Oncology, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Center for Cardiovascular Biology, University of Washington School of Medicine, Seattle, WA, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA., Chang AT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Sheehan JP; Division of Hematology, Medical Oncology, and Palliative Care, Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Johnsen JM; Division of Hematology and Oncology, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Center for Cardiovascular Biology, University of Washington School of Medicine, Seattle, WA, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.; Bloodworks Northwest, Seattle, WA, USA.; Washington Center for Bleeding Disorders, Seattle, WA., Fowler DM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Bioengineering, University of Washington School of Medicine, Seattle, WA.

Journal Article; Preprint , 2025

MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays.

Rubin AF; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia. alan.rubin@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Parkville, Australia. alan.rubin@wehi.edu.au., Stone J; Brotman Baty Institute for Precision Medicine, Seattle, USA., Bianchi AH; Department of Genome Sciences, University of Washington, Seattle, USA., Capodanno BJ; Brotman Baty Institute for Precision Medicine, Seattle, USA., Da EY; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia., Dias M; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; University Pompeu Fabra, Barcelona, Spain., Esposito D; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia., Frazer J; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; University Pompeu Fabra, Barcelona, Spain., Fu Y; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia., Grindstaff SB; Brotman Baty Institute for Precision Medicine, Seattle, USA., Harrington MR; Department of Genome Sciences, University of Washington, Seattle, USA., Li I; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia., McEwen AE; Brotman Baty Institute for Precision Medicine, Seattle, USA.; Department of Genome Sciences, University of Washington, Seattle, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, USA., Min JK; Department of Genome Sciences, University of Washington, Seattle, USA., Moore N; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia., Moscatelli OG; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Immunology Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia., Ong J; Immunology Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Microbiology and Immunology, University of Melbourne, Parkville, Australia., Polunina PV; Bioinformatics Group, Department of Computer Science, University of Freiburg, Freiburg, Germany., Rollins JE; Department of Computer Science, The Graduate Center, The City University of New York, New York, USA., Rollins NJ; Seismic Therapeutics, Watertown, USA., Snyder AE; Brotman Baty Institute for Precision Medicine, Seattle, USA., Tam A; Department of Systems Biology, Harvard Medical School, Boston, USA., Wakefield MJ; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Department of Obstetrics, Gynaecology and Newborn Health, University of Melbourne, Parkville, Australia., Ye SS; Department of Genome Sciences, University of Washington, Seattle, USA., Starita LM; Brotman Baty Institute for Precision Medicine, Seattle, USA.; Department of Genome Sciences, University of Washington, Seattle, USA., Bryant VL; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Immunology Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Clinical Immunology & Allergy, The Royal Melbourne Hospital, Parkville, Australia., Marks DS; Department of Systems Biology, Harvard Medical School, Boston, USA. debbie@hms.harvard.edu.; Broad Institute of Harvard and MIT, Boston, USA. debbie@hms.harvard.edu., Fowler DM; Brotman Baty Institute for Precision Medicine, Seattle, USA. dfowler@uw.edu.; Department of Genome Sciences, University of Washington, Seattle, USA. dfowler@uw.edu.; Department of Bioengineering, University of Washington, Seattle, USA. dfowler@uw.edu.

Journal Article , 2025

A missense variant effect map for the human tumor-suppressor protein CHK2.

Gebbia M; The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Zimmerman D; The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Jiang R; The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Nguyen M; The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Weile J; The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Li R; The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Gavac M; The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Kishore N; The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Sun S; The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Boonen RA; Leiden University Medical Center, Leiden, the Netherlands., Hamilton R; Woods Hole Oceanographic Institution, Woods Hole, MA, USA., Dines JN; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Wahl A; Invitae Corp, San Francisco, CA 94103, USA., Reuter J; Invitae Corp, San Francisco, CA 94103, USA., Johnson B; Invitae Corp, San Francisco, CA 94103, USA., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Department of Bioengineering, University of Washington, Seattle, WA, USA., Couch FJ; Mayo Clinic, Rochester, MN 55905, USA., van Attikum H; Leiden University Medical Center, Leiden, the Netherlands., Roth FP; The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Electronic address: fritz@pitt.edu.

Journal Article , 2024

Understanding genetic variants in context.

Sinnott-Armstrong N; Herbold Computational Biology Program, Fred Hutchinson Cancer Center, Seattle, United States.; Department of Genome Sciences, University of Washington, Seattle, United States.; Brotman Baty Institute for Precision Medicine, Seattle, United States., Fields S; Department of Genome Sciences, University of Washington, Seattle, United States.; Department of Medicine, University of Washington, Seattle, United States., Roth F; Donnelly Centre and Departments of Molecular Genetics and Computer Science, University of Toronto, Toronto, Canada.; Lunenfeld-Tanenbaum Research Institute, Mt. Sinai Hospital, Toronto, Canada.; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, United States., Starita LM; Department of Genome Sciences, University of Washington, Seattle, United States.; Brotman Baty Institute for Precision Medicine, Seattle, United States., Trapnell C; Department of Genome Sciences, University of Washington, Seattle, United States.; Brotman Baty Institute for Precision Medicine, Seattle, United States., Villen J; Department of Genome Sciences, University of Washington, Seattle, United States.; Brotman Baty Institute for Precision Medicine, Seattle, United States., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, United States.; Brotman Baty Institute for Precision Medicine, Seattle, United States.; Department of Bioengineering, University of Washington, Seattle, United States., Queitsch C; Department of Genome Sciences, University of Washington, Seattle, United States.; Brotman Baty Institute for Precision Medicine, Seattle, United States.

Journal Article , 2024

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.

Dawood M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Moez.Dawood@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Moez.Dawood@bcm.edu.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA. Moez.Dawood@bcm.edu., Fayer S; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Pendyala S; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Medical Scientist Training Program, University of Washington, Seattle, WA, USA., Post M; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Kalra D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Patterson K; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Venner E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Muffley LA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Fowler DM; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Department of Bioengineering, University of Washington, Seattle, WA, USA., Rubin AF; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Plon SE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Starita LM; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Robles-Espinoza CD; Laboratorio Internacional de Investigación Sobre El Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Querétaro, Qro, Mexico.; CASM, Wellcome Sanger Institute, Hinxton, UK., Coyote-Maestas W; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, USA. willow.coyote-maestas@ucsf.edu.; Quantitative Biosciences Institute, University of California, San Francisco, USA. willow.coyote-maestas@ucsf.edu., Gallego Romero I; Human Genomics and Evolution, St Vincent's Institute of Medical Research, Fitzroy, 3065, Australia. irene.gallego@svi.edu.au.; School of BioSciences and Melbourne Integrative Genomics, The University of Melbourne, Royal Parade, Parkville, 3010, Australia. irene.gallego@svi.edu.au.; Center for Genomics, Evolution and Medicine, Institute of Genomics, University of Tartu, Riia 23B, 51010, Tartu, Estonia. irene.gallego@svi.edu.au.; Mary MacKillop Institute for Health Research, Australian Catholic University, Fitzroy, Australia. irene.gallego@svi.edu.au.

Journal Article , 2024

Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoff.

Boyle GE; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Sitko KA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Galloway JG; Computational Biology Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA., Haddox HK; Computational Biology Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA., Bianchi AH; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Dixon A; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Wheelock MK; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Vandi AJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Wang ZR; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Thomson RES; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD 4067, Australia., Garge RK; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, USA., Rettie AE; Department of Medicinal Chemistry, University of Washington, Seattle, WA 98195, USA., Rubin AF; Bioinformatics Division, Walter and Eliza Hall Institute, Parkville, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Geck RC; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Gillam EMJ; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD 4067, Australia., DeWitt WS; Department of Electrical Engineering and Computer Science, University of California at Berkeley, Berkeley, CA 94720, USA., Matsen FA 4th; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Computational Biology Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.; Howard Hughes Medical Institute, Seattle, WA 98109, USA.; Department of Statistics, University of Washington, Seattle, WA 98195, USA., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.

Journal Article , 2024

Multiplexed profiling of intracellular protein abundance, activity, interactions and druggability with LABEL-seq.

Simon JJ; Department of Chemistry, University of Washington, Seattle, WA, USA., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA. dfowler@uw.edu.; Department of Bioengineering, University of Washington, Seattle, WA, USA. dfowler@uw.edu.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. dfowler@uw.edu., Maly DJ; Department of Chemistry, University of Washington, Seattle, WA, USA. djmaly@uw.edu.; Department of Biochemistry, University of Washington, Seattle, WA, USA. djmaly@uw.edu.

Journal Article , 2024

Retinoic acid induces human gastruloids with posterior embryo-like structures.

Hamazaki N; Department of Genome Sciences, University of Washington, Seattle, WA, USA. hamazaki@uw.edu.; Department of Obstetrics & Gynecology, University of Washington, Seattle, WA, USA. hamazaki@uw.edu.; Institute for Stem Cell & Regenerative Medicine, University of Washington, Seattle, WA, USA. hamazaki@uw.edu.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. hamazaki@uw.edu.; Seattle Hub for Synthetic Biology, Seattle, WA, USA. hamazaki@uw.edu., Yang W; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA., Kubo CA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA., Qiu C; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA., Martin BK; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA., Garge RK; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Regalado SG; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA.; Medical Scientist Training Program, University of Washington, Seattle, WA, USA., Nichols EK; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Pendyala S; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Bradley N; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Bioengineering, University of Washington, Seattle, WA, USA., Lee C; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA., Daza RM; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA., Srivatsan S; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Fred Hutchinson Cancer Center, Seattle, WA, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA, USA. shendure@uw.edu.; Institute for Stem Cell & Regenerative Medicine, University of Washington, Seattle, WA, USA. shendure@uw.edu.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. shendure@uw.edu.; Seattle Hub for Synthetic Biology, Seattle, WA, USA. shendure@uw.edu.; Howard Hughes Medical Institute, Seattle, WA, USA. shendure@uw.edu.; Allen Discovery Center for Cell Lineage Tracing, Seattle, WA, USA. shendure@uw.edu.

Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S. , 2024

Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes.

Tejura M; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Fayer S; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., McEwen AE; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA., Flynn J; University of Washington Interdisciplinary Data Science Group, Seattle, WA 98195, USA., Starita LM; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA. Electronic address: lstarita@uw.edu., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA. Electronic address: dfowler@uw.edu.

Journal Article , 2024

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, 1235 Medical Research Building IV, 2215B Garland Avenue, Nashville, TN, 37232, USA.; Medical Scientist Training Program, Vanderbilt University, Nashville, TN, 37232, USA., Calandranis ME; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Li B; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA., Yang T; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Blackwell DJ; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Harvey ML; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Smith JE; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Daniel ZA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Chew AE; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Capra JA; Bakar Computational Health Sciences Institute and Department of Epidemiology and Biostatistics, University of California, San Francisco, CA, 94143, USA., Matreyek KA; Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, 98195, USA., Roden DM; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, 1235 Medical Research Building IV, 2215B Garland Avenue, Nashville, TN, 37232, USA.; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Glazer AM; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, 1235 Medical Research Building IV, 2215B Garland Avenue, Nashville, TN, 37232, USA. andrew.m.glazer@vumc.org.; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA. andrew.m.glazer@vumc.org.

Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't , 2024