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Human de novo mutation rates from a four-generation pedigree reference.

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第一作者: David,Porubsky
第一单位: Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
作者单位: Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. [1] Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.;Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. [2] Department of Human Genetics, University of Utah, Salt Lake City, UT, USA. [3] Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.;Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [4] The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. [5] PacBio, Menlo Park, CA, USA. [6] Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.;Department of Internal Medicine, University of Kentucky College of Medicine, Lexington, KY, USA. [7] Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA. [8] Space Biosciences Research Branch, NASA Ames Research Center, Moffett Field, CA, USA.;Blue Marble Space Institute of Science, Seattle, WA, USA. [9] Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [10] Core Unit Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.;Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany. [11] Terry Fox Laboratory, BC Cancer Agency, Vancouver, British Columbia, Canada. [12] Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.;Altos Labs, San Diego, CA, USA. [13] Element Biosciences, San Diego, CA, USA. [14] Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.;The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA.;The WorldQuant Initiative for Quantitative Prediction, Weill Cornell Medicine, New York, NY, USA. [15] Terry Fox Laboratory, BC Cancer Agency, Vancouver, British Columbia, Canada.;Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada. [16] Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. ee3@uw.edu.;Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. ee3@uw.edu. [17]
DOI 10.1038/s41586-025-08922-2
PMID 40269156
发布时间 2026-04-10
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