New Results
A robust benchmark for germline structural variant detection
View ORCID ProfileJustin M. Zook, Nancy F. Hansen, Nathan D. Olson, Lesley M. Chapman, View ORCID ProfileJames C. Mullikin, Chunlin Xiao, Stephen Sherry, Sergey Koren, Adam M. Phillippy, View ORCID ProfilePaul C. Boutros, Sayed Mohammad E. Sahraeian, Vincent Huang, Alexandre Rouette, Noah Alexander, Christopher E. Mason, Iman Hajirasouliha, Camir Ricketts, Joyce Lee, Rick Tearle, Ian T. Fiddes, Alvaro Martinez Barrio, Jeremiah Wala, Andrew Carroll, Noushin Ghaffari, Oscar L. Rodriguez, Ali Bashir, View ORCID ProfileShaun Jackman, John J Farrell, Aaron M Wenger, View ORCID ProfileCan Alkan, Arda Soylev, Michael C. Schatz, Shilpa Garg, George Church, Tobias Marschall, Ken Chen, Xian Fan, Adam C. English, Jeffrey A. Rosenfeld, Weichen Zhou, Ryan E. Mills, Jay M. Sage, Jennifer R. Davis, Michael D. Kaiser, John S. Oliver, Anthony P. Catalano, Mark JP Chaisson, Noah Spies, Fritz J. Sedlazeck, Marc Salit, the Genome in a Bottle Consortium
doi: https://doi.org/10.1101/664623
Justin M. Zook
1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899
Nancy F. Hansen
2National Human Genome Research Institute, National Institutes of Health, 5625 Fishers Lane, Rockville, MD 20852
Nathan D. Olson
1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899
Lesley M. Chapman
1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899
James C. Mullikin
2National Human Genome Research Institute, National Institutes of Health, 5625 Fishers Lane, Rockville, MD 20852
Chunlin Xiao
3National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, MD, 20894
Stephen Sherry
3National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, MD, 20894
Sergey Koren
2National Human Genome Research Institute, National Institutes of Health, 5625 Fishers Lane, Rockville, MD 20852
Adam M. Phillippy
2National Human Genome Research Institute, National Institutes of Health, 5625 Fishers Lane, Rockville, MD 20852
Paul C. Boutros
4Department of Human Genetics, University of California, Los Angeles
Sayed Mohammad E. Sahraeian
5Roche Sequencing Solutions, Belmont, CA, 94002, USA
Vincent Huang
6Ontario Institute for Cancer Research, 661 University Ave, Suite 510, Toronto, ON M5G 0A3
Alexandre Rouette
7Charles-Bruneau Cancer Centre, Division of Hematology-oncology, CHU Sainte-Justine, Montreal, Canada
Noah Alexander
8Molecular Biology Institute, University of California, Los Angeles
Christopher E. Mason
9Weill Cornell Medicine, 1300 York Ave., New York, NY 10065
Iman Hajirasouliha
9Weill Cornell Medicine, 1300 York Ave., New York, NY 10065
Camir Ricketts
9Weill Cornell Medicine, 1300 York Ave., New York, NY 10065
Joyce Lee
10Bionano Genomics, Inc. 9540 Towne Centre Drive, Ste. 100, San Diego, CA 92121
Rick Tearle
11Davies Research Centre, School of Animal and Veterinary Sciences, University of Adelaide, Roseworthy SA 5371, Australia
Ian T. Fiddes
1210x Genomics, Pleasanton, California 94566, USA
Alvaro Martinez Barrio
1210x Genomics, Pleasanton, California 94566, USA
Jeremiah Wala
13Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142
Andrew Carroll
14Google, 1600 Amphitheater Pkwy, Mountain View, CA 94040
Noushin Ghaffari
15Genomics and Bioinformatics, Texas A&M AgriLife Research, Texas A&M University, 1500 Research Parkway, Suite 250B, College Station, TX 77845; TAMU HPRC, Texas A&M University, Mail Stop 3361, College Station, TX 77843-3361
Oscar L. Rodriguez
16Department of Genetics and Data Sciences, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place New York, NY 10029-5674
Ali Bashir
16Department of Genetics and Data Sciences, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place New York, NY 10029-5674
Shaun Jackman
17BC Cancer Genome Sciences Centre, 100-570 W 7th Ave, Vancouver, BC, V5Z 4S6, Canada
John J Farrell
18Biomedical Genetics, Dept of Medicine, Boston University Medical School, 72 East Concord Street, Boston MA 02118
Aaron M Wenger
19Pacific Biosciences, Menlo Park, CA 94025, USA
Can Alkan
20Department of Computer Engineering, Bilkent University, Ankara 06800, Turkey
Arda Soylev
21Department of Computer Engineering, Konya Food and Agriculture University, Konya 42080, Turkey
Michael C. Schatz
22Departments of Computer Science and Biology, Johns Hopkins University, Baltimore, MD, 21218
Shilpa Garg
23Department of Genetics, Harvard Medical School, Boston, MA
George Church
23Department of Genetics, Harvard Medical School, Boston, MA
Tobias Marschall
24Saarland University and Max Planck Institute for Informatics, Saarland Informatics Campus E2.1, 66123 Saarbrücken, Germany
Ken Chen
25Department of Bioinformatics and Computational Biology, MD Anderson Cancer Center, Houston, TX, 77030
Xian Fan
26Department of Computer Science, Rice University, Houston, TX, 77005
Adam C. English
27Bioinformatics R&D, Spiral Genetics, Seattle WA 98104
Jeffrey A. Rosenfeld
28Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA Department of Pathology, Robert Wood Johnson Medical School, New Brunswick, NJ, USA
Weichen Zhou
29Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI 48109, USA
Ryan E. Mills
29Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI 48109, USA
Jay M. Sage
30Nabsys 2.0, LLC, 60 Clifford St, Providence, RI 02903
Jennifer R. Davis
30Nabsys 2.0, LLC, 60 Clifford St, Providence, RI 02903
Michael D. Kaiser
30Nabsys 2.0, LLC, 60 Clifford St, Providence, RI 02903
John S. Oliver
30Nabsys 2.0, LLC, 60 Clifford St, Providence, RI 02903
Anthony P. Catalano
30Nabsys 2.0, LLC, 60 Clifford St, Providence, RI 02903
Mark JP Chaisson
31Quantitative and Computational Biology, University of Southern California, 1050 Childs Way RRI 408H, Los Angeles, CA, 90089
Noah Spies
32Joint Initiative for Metrology in Biology, SLAC National Accelerator Lab, Stanford University, 435 Via Ortega, Stanford, CA 94305
Fritz J. Sedlazeck
33Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030
Marc Salit
32Joint Initiative for Metrology in Biology, SLAC National Accelerator Lab, Stanford University, 435 Via Ortega, Stanford, CA 94305
Posted July 18, 2019.
A robust benchmark for germline structural variant detection
Justin M. Zook, Nancy F. Hansen, Nathan D. Olson, Lesley M. Chapman, James C. Mullikin, Chunlin Xiao, Stephen Sherry, Sergey Koren, Adam M. Phillippy, Paul C. Boutros, Sayed Mohammad E. Sahraeian, Vincent Huang, Alexandre Rouette, Noah Alexander, Christopher E. Mason, Iman Hajirasouliha, Camir Ricketts, Joyce Lee, Rick Tearle, Ian T. Fiddes, Alvaro Martinez Barrio, Jeremiah Wala, Andrew Carroll, Noushin Ghaffari, Oscar L. Rodriguez, Ali Bashir, Shaun Jackman, John J Farrell, Aaron M Wenger, Can Alkan, Arda Soylev, Michael C. Schatz, Shilpa Garg, George Church, Tobias Marschall, Ken Chen, Xian Fan, Adam C. English, Jeffrey A. Rosenfeld, Weichen Zhou, Ryan E. Mills, Jay M. Sage, Jennifer R. Davis, Michael D. Kaiser, John S. Oliver, Anthony P. Catalano, Mark JP Chaisson, Noah Spies, Fritz J. Sedlazeck, Marc Salit, the Genome in a Bottle Consortium
bioRxiv 664623; doi: https://doi.org/10.1101/664623
A robust benchmark for germline structural variant detection
Justin M. Zook, Nancy F. Hansen, Nathan D. Olson, Lesley M. Chapman, James C. Mullikin, Chunlin Xiao, Stephen Sherry, Sergey Koren, Adam M. Phillippy, Paul C. Boutros, Sayed Mohammad E. Sahraeian, Vincent Huang, Alexandre Rouette, Noah Alexander, Christopher E. Mason, Iman Hajirasouliha, Camir Ricketts, Joyce Lee, Rick Tearle, Ian T. Fiddes, Alvaro Martinez Barrio, Jeremiah Wala, Andrew Carroll, Noushin Ghaffari, Oscar L. Rodriguez, Ali Bashir, Shaun Jackman, John J Farrell, Aaron M Wenger, Can Alkan, Arda Soylev, Michael C. Schatz, Shilpa Garg, George Church, Tobias Marschall, Ken Chen, Xian Fan, Adam C. English, Jeffrey A. Rosenfeld, Weichen Zhou, Ryan E. Mills, Jay M. Sage, Jennifer R. Davis, Michael D. Kaiser, John S. Oliver, Anthony P. Catalano, Mark JP Chaisson, Noah Spies, Fritz J. Sedlazeck, Marc Salit, the Genome in a Bottle Consortium
bioRxiv 664623; doi: https://doi.org/10.1101/664623
Subject Area
Subject Areas
- Biochemistry (11744)
- Bioengineering (8751)
- Bioinformatics (29193)
- Biophysics (14968)
- Cancer Biology (12094)
- Cell Biology (17411)
- Clinical Trials (138)
- Developmental Biology (9421)
- Ecology (14178)
- Epidemiology (2067)
- Evolutionary Biology (18303)
- Genetics (12244)
- Genomics (16801)
- Immunology (11866)
- Microbiology (28082)
- Molecular Biology (11592)
- Neuroscience (60959)
- Paleontology (451)
- Pathology (1870)
- Pharmacology and Toxicology (3238)
- Physiology (4957)
- Plant Biology (10427)
- Synthetic Biology (2885)
- Systems Biology (7339)
- Zoology (1651)