换一批
换一批A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigree.
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：
David,Porubsky [1]
;
Harriet,Dashnow [2]
;
Thomas A,Sasani [3]
;
Glennis A,Logsdon [4]
;
Pille,Hallast [5]
;
Michelle D,Noyes [1]
;
Zev N,Kronenberg [6]
;
Tom,Mokveld [6]
;
Nidhi,Koundinya [1]
;
Cillian,Nolan [6]
;
Cody J,Steely [7]
;
Andrea,Guarracino [8]
;
Egor,Dolzhenko [6]
;
William T,Harvey [1]
;
William J,Rowell [9]
;
Kirill,Grigorev [10]
;
Thomas J,Nicholas [3]
;
Keisuke K,Oshima [11]
;
Jiadong,Lin [1]
;
Peter,Ebert [12]
;
W Scott,Watkins [3]
;
Tiffany Y,Leung [13]
;
Vincent C T,Hanlon [14]
;
Sean,McGee [1]
;
Brent S,Pedersen [3]
;
Michael E,Goldberg [3]
;
Hannah C,Happ [3]
;
Hyeonsoo,Jeong [15]
;
Katherine M,Munson [1]
;
Kendra,Hoekzema [1]
;
Daniel D,Chan [13]
;
Yanni,Wang [13]
;
Jordan,Knuth [1]
;
Gage H,Garcia [1]
;
Cairbre,Fanslow [6]
;
Christine,Lambert [6]
;
Charles,Lee [5]
;
Joshua D,Smith [1]
;
Shawn,Levy [16]
;
Christopher E,Mason [17]
;
Erik,Garrison [8]
;
Peter M,Lansdorp [13]
;
Deborah W,Neklason [3]
;
Lynn B,Jorde [3]
;
Aaron R,Quinlan [3]
;
Michael A,Eberle [6]
;
Evan E,Eichler [18]
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.;Present address: 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]
Department of Internal Medicine, University of Kentucky College of Medicine, Lexington, KY, USA.
[9]
Blue Marble Space Institute of Science, Seattle, WA, USA.;Core Unit Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.
[10]
Present address: Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[11]
Core Unit Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.;Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
[12]
Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, Canada.
[13]
Present address: Altos Labs, San Diego, CA, USA.
[14]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.;Present address: Altos Labs, San Diego, CA, USA.
[15]
HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
[16]
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.
[17]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.;Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
[18]
DOI
10.1101/2024.08.05.606142
PMID
39149261
发布时间
2024-10-23
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bioRxiv
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