New Results
An open resource of structural variation for medical and population genetics
Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Amit V. Khera, Laurent C. Francioli, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell-Luria, Alexander Baumann, Ruchi Munshi, Chelsea Lowther, Mark Walker, Christopher Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Christine Stevens, Namrata Gupta, Lauren Margolin, The Genome Aggregation Database (gnomAD) Production Team, The gnomAD Consortium, John A. Spertus, Kent D. Taylor, Henry J. Lin, Stephen S. Rich, Wendy Post, Yii-Der Ida Chen, Jerome I. Rotter, Chad Nusbaum, Anthony Philippakis, Eric Lander, Stacey Gabriel, Benjamin M. Neale, Sekar Kathiresan, Mark J. Daly, Eric Banks, Daniel G. MacArthur, Michael E. Talkowski
doi: https://doi.org/10.1101/578674
Ryan L. Collins
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
3Division of Medical Sciences, Harvard Medical School, Boston, MA
Harrison Brand
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
4Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA
Konrad J. Karczewski
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
Xuefang Zhao
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
4Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA
Jessica Alföldi
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
Amit V. Khera
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
Laurent C. Francioli
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
5Department of Medicine, Harvard Medical School, Boston, MA
Laura D. Gauthier
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
6Data Science Platform, Broad Institute of Harvard and M.I.T., Cambridge, MA
Harold Wang
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
Nicholas A. Watts
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
Matthew Solomonson
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
Anne O’Donnell-Luria
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
Alexander Baumann
6Data Science Platform, Broad Institute of Harvard and M.I.T., Cambridge, MA
Ruchi Munshi
6Data Science Platform, Broad Institute of Harvard and M.I.T., Cambridge, MA
Chelsea Lowther
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
4Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA
Mark Walker
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
6Data Science Platform, Broad Institute of Harvard and M.I.T., Cambridge, MA
Christopher Whelan
6Data Science Platform, Broad Institute of Harvard and M.I.T., Cambridge, MA
10Department of Pediatrics at Harbor-UCLA Medical Center, Torrance, CA
Yongqing Huang
6Data Science Platform, Broad Institute of Harvard and M.I.T., Cambridge, MA
Ted Brookings
6Data Science Platform, Broad Institute of Harvard and M.I.T., Cambridge, MA
Ted Sharpe
6Data Science Platform, Broad Institute of Harvard and M.I.T., Cambridge, MA
Matthew R. Stone
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
Elise Valkanas
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
3Division of Medical Sciences, Harvard Medical School, Boston, MA
Jack Fu
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
4Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA
Grace Tiao
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
Kristen M. Laricchia
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
Christine Stevens
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
Namrata Gupta
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
Lauren Margolin
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
7Group authors are enumerated at the end of this document
7Group authors are enumerated at the end of this document
John A. Spertus
8Department of Biomedical and Health Informatics, Saint Luke’s Mid America Heart Institute, University of Missouri, Kansas City, MO
Kent D. Taylor
9Institute for Translational Genomics and Population Sciences, LABioMed, Torrance, CA
10Department of Pediatrics at Harbor-UCLA Medical Center, Torrance, CA
Henry J. Lin
10Department of Pediatrics at Harbor-UCLA Medical Center, Torrance, CA
11Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, CA, USA
Stephen S. Rich
12Center for Public Health Genomics, University of Virginia School of Medicine, Richmond, VA
Wendy Post
13Johns Hopkins University School of Medicine, Baltimore, MD
Yii-Der Ida Chen
9Institute for Translational Genomics and Population Sciences, LABioMed, Torrance, CA
10Department of Pediatrics at Harbor-UCLA Medical Center, Torrance, CA
Jerome I. Rotter
9Institute for Translational Genomics and Population Sciences, LABioMed, Torrance, CA
10Department of Pediatrics at Harbor-UCLA Medical Center, Torrance, CA
Chad Nusbaum
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
Anthony Philippakis
6Data Science Platform, Broad Institute of Harvard and M.I.T., Cambridge, MA
Eric Lander
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
14Department of Systems Biology, Harvard Medical School, Boston, MA
15Division of Health Sciences and Technology, M.I.T., Cambridge, MA
Stacey Gabriel
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
Benjamin M. Neale
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
3Division of Medical Sciences, Harvard Medical School, Boston, MA
16Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T., Cambridge, MA
Sekar Kathiresan
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
5Department of Medicine, Harvard Medical School, Boston, MA
17Division of Cardiology, Massachusetts General Hospital, Boston, MA
Mark J. Daly
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
3Division of Medical Sciences, Harvard Medical School, Boston, MA
16Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T., Cambridge, MA
Eric Banks
6Data Science Platform, Broad Institute of Harvard and M.I.T., Cambridge, MA
Daniel G. MacArthur
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
3Division of Medical Sciences, Harvard Medical School, Boston, MA
5Department of Medicine, Harvard Medical School, Boston, MA
Michael E. Talkowski
1Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.), Cambridge, MA
2Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
3Division of Medical Sciences, Harvard Medical School, Boston, MA
4Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA
16Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T., Cambridge, MA
Article usage
Posted March 14, 2019.
An open resource of structural variation for medical and population genetics
Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Amit V. Khera, Laurent C. Francioli, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell-Luria, Alexander Baumann, Ruchi Munshi, Chelsea Lowther, Mark Walker, Christopher Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Christine Stevens, Namrata Gupta, Lauren Margolin, The Genome Aggregation Database (gnomAD) Production Team, The gnomAD Consortium, John A. Spertus, Kent D. Taylor, Henry J. Lin, Stephen S. Rich, Wendy Post, Yii-Der Ida Chen, Jerome I. Rotter, Chad Nusbaum, Anthony Philippakis, Eric Lander, Stacey Gabriel, Benjamin M. Neale, Sekar Kathiresan, Mark J. Daly, Eric Banks, Daniel G. MacArthur, Michael E. Talkowski
bioRxiv 578674; doi: https://doi.org/10.1101/578674
An open resource of structural variation for medical and population genetics
Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Amit V. Khera, Laurent C. Francioli, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell-Luria, Alexander Baumann, Ruchi Munshi, Chelsea Lowther, Mark Walker, Christopher Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Christine Stevens, Namrata Gupta, Lauren Margolin, The Genome Aggregation Database (gnomAD) Production Team, The gnomAD Consortium, John A. Spertus, Kent D. Taylor, Henry J. Lin, Stephen S. Rich, Wendy Post, Yii-Der Ida Chen, Jerome I. Rotter, Chad Nusbaum, Anthony Philippakis, Eric Lander, Stacey Gabriel, Benjamin M. Neale, Sekar Kathiresan, Mark J. Daly, Eric Banks, Daniel G. MacArthur, Michael E. Talkowski
bioRxiv 578674; doi: https://doi.org/10.1101/578674
Subject Area
Subject Areas
- Biochemistry (11562)
- Bioengineering (8622)
- Bioinformatics (28865)
- Biophysics (14793)
- Cancer Biology (11921)
- Cell Biology (17165)
- Clinical Trials (138)
- Developmental Biology (9302)
- Ecology (14019)
- Epidemiology (2067)
- Evolutionary Biology (18128)
- Genetics (12145)
- Genomics (16615)
- Immunology (11706)
- Microbiology (27690)
- Molecular Biology (11386)
- Neuroscience (60092)
- Paleontology (447)
- Pathology (1847)
- Pharmacology and Toxicology (3183)
- Physiology (4878)
- Plant Biology (10276)
- Synthetic Biology (2849)
- Systems Biology (7289)
- Zoology (1618)