New Results
precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
View ORCID ProfileNathan D. Olson, Justin Wagner, Jennifer McDaniel, Sarah H. Stephens, Samuel T. Westreich, Anish G. Prasanna, Elaine Johanson, View ORCID ProfileEmily Boja, Ezekiel J. Maier, Omar Serang, View ORCID ProfileDavid Jáspez, View ORCID ProfileJosé M. Lorenzo-Salazar, Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, View ORCID ProfileCarlos Flores, Konstantinos Kyriakidis, View ORCID ProfileAndigoni Malousi, Kishwar Shafin, View ORCID ProfileTrevor Pesout, Miten Jain, Benedict Paten, Pi-Chuan Chang, Alexey Kolesnikov, Maria Nattestad, Gunjan Baid, Sidharth Goel, Howard Yang, Andrew Carroll, Robert Eveleigh, Mathieu Bourgey, View ORCID ProfileGuillaume Bourque, Gen Li, MA ChouXian, LinQi Tang, DU YuanPing, ShaoWei Zhang, View ORCID ProfileJordi Morata, View ORCID ProfileRaúl Tonda, View ORCID ProfileGenís Parra, View ORCID ProfileJean-Rémi Trotta, View ORCID ProfileChristian Brueffer, View ORCID ProfileSinem Demirkaya-Budak, Duygu Kabakci-Zorlu, Deniz Turgut, Özem Kalay, View ORCID ProfileGungor Budak, Kübra Narcı, Elif Arslan, Richard Brown, Ivan J Johnson, Alexey Dolgoborodov, Vladimir Semenyuk, Amit Jain, View ORCID ProfileH. Serhat Tetikol, Varun Jain, Mike Ruehle, Bryan Lajoie, Cooper Roddey, Severine Catreux, Rami Mehio, Umair Ahsan, Qian Liu, Kai Wang, Sayed Mohammad Ebrahim Sahraeian, View ORCID ProfileLi Tai Fang, Marghoob Mohiyuddin, Calvin Hung, Chirag Jain, Hanying Feng, Zhipan Li, Luoqi Chen, View ORCID ProfileFritz J. Sedlazeck, View ORCID ProfileJustin M. Zook
doi: https://doi.org/10.1101/2020.11.13.380741
Nathan D. Olson
1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899
Justin Wagner
1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899
Jennifer McDaniel
1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899
Sarah H. Stephens
2Booz Allen Hamilton, 8283 Greensboro Drive Mclean, VA 22102
Samuel T. Westreich
3DNAnexus, Inc., 1975 W El Camino Real #204, Mountain View, CA 94040
Anish G. Prasanna
2Booz Allen Hamilton, 8283 Greensboro Drive Mclean, VA 22102
Elaine Johanson
4Office of Health Informatics, Office of the Chief Scientist, Office of the Commissioner, US Food and Drug Administration, Silver Spring, MD, USA
Emily Boja
4Office of Health Informatics, Office of the Chief Scientist, Office of the Commissioner, US Food and Drug Administration, Silver Spring, MD, USA
Ezekiel J. Maier
2Booz Allen Hamilton, 8283 Greensboro Drive Mclean, VA 22102
Omar Serang
3DNAnexus, Inc., 1975 W El Camino Real #204, Mountain View, CA 94040
David Jáspez
5Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain
José M. Lorenzo-Salazar
5Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain
Adrián Muñoz-Barrera
5Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain
Luis A. Rubio-Rodríguez
5Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain
Carlos Flores
5Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain
6CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain
7Research Unit, Hospital Universitario N.S. de Candelaria, Santa Cruz de Tenerife, Spain
8Instituto de Tecnologías Biomédicas (ITB), Universidad de La Laguna, 38200 San Cristóbal de La Laguna, Spain
Konstantinos Kyriakidis
9School of Pharmacy, Aristotle University of Thessaloniki (AUTH), 541 24 Thessaloniki, Greece
10Genomics and Epigenomics Translational Research (GENeTres), Center for Interdisciplinary Research and Innovation, 570 01 Thessaloniki, Greece
Andigoni Malousi
10Genomics and Epigenomics Translational Research (GENeTres), Center for Interdisciplinary Research and Innovation, 570 01 Thessaloniki, Greece
11Laboratory of Biological Chemistry, School of Medicine, Aristotle University of Thessaloniki (AUTH), 541 24 Thessaloniki, Greece
Kishwar Shafin
12UC Santa Cruz Genomics Institute, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA, USA
Trevor Pesout
12UC Santa Cruz Genomics Institute, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA, USA
Miten Jain
12UC Santa Cruz Genomics Institute, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA, USA
Benedict Paten
12UC Santa Cruz Genomics Institute, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA, USA
Pi-Chuan Chang
13Google Inc, 1600 Amphitheatre Pkwy, Mountain View, CA 94040
Alexey Kolesnikov
13Google Inc, 1600 Amphitheatre Pkwy, Mountain View, CA 94040
Maria Nattestad
13Google Inc, 1600 Amphitheatre Pkwy, Mountain View, CA 94040
Gunjan Baid
13Google Inc, 1600 Amphitheatre Pkwy, Mountain View, CA 94040
Sidharth Goel
13Google Inc, 1600 Amphitheatre Pkwy, Mountain View, CA 94040
Howard Yang
13Google Inc, 1600 Amphitheatre Pkwy, Mountain View, CA 94040
Andrew Carroll
13Google Inc, 1600 Amphitheatre Pkwy, Mountain View, CA 94040
Robert Eveleigh
14The Canadian Center for Computational Genomics (C3G)
Mathieu Bourgey
14The Canadian Center for Computational Genomics (C3G)
Guillaume Bourque
14The Canadian Center for Computational Genomics (C3G)
Gen Li
15HuXinDao, QingZhuHu TaiYangShan Road, KaiFu, ChangSha, HuNan, China
MA ChouXian
15HuXinDao, QingZhuHu TaiYangShan Road, KaiFu, ChangSha, HuNan, China
LinQi Tang
15HuXinDao, QingZhuHu TaiYangShan Road, KaiFu, ChangSha, HuNan, China
DU YuanPing
15HuXinDao, QingZhuHu TaiYangShan Road, KaiFu, ChangSha, HuNan, China
ShaoWei Zhang
15HuXinDao, QingZhuHu TaiYangShan Road, KaiFu, ChangSha, HuNan, China
Jordi Morata
16CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, 08028 Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain
Raúl Tonda
16CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, 08028 Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain
Genís Parra
16CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, 08028 Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain
Jean-Rémi Trotta
16CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, 08028 Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain
Christian Brueffer
17Division of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden
Sinem Demirkaya-Budak
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Duygu Kabakci-Zorlu
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Deniz Turgut
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Özem Kalay
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Gungor Budak
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Kübra Narcı
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Elif Arslan
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Richard Brown
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Ivan J Johnson
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Alexey Dolgoborodov
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Vladimir Semenyuk
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Amit Jain
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
H. Serhat Tetikol
18Seven Bridges Genomics, Inc, Charlestown, MA, USA
Varun Jain
19Illumina, Inc
Mike Ruehle
19Illumina, Inc
Bryan Lajoie
19Illumina, Inc
Cooper Roddey
19Illumina, Inc
Severine Catreux
19Illumina, Inc
Rami Mehio
19Illumina, Inc
Umair Ahsan
20Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Qian Liu
20Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Kai Wang
20Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
21Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Sayed Mohammad Ebrahim Sahraeian
22Roche Sequencing Solutions, Santa Clara, CA, 95050, USA
Li Tai Fang
22Roche Sequencing Solutions, Santa Clara, CA, 95050, USA
Marghoob Mohiyuddin
22Roche Sequencing Solutions, Santa Clara, CA, 95050, USA
Calvin Hung
23WASAI Technology, Taipei, Taiwan
Chirag Jain
24National Human Genome Research Institute, National Institutes of Health
Hanying Feng
25Sentieon Inc., San Jose, CA
Zhipan Li
25Sentieon Inc., San Jose, CA
Luoqi Chen
25Sentieon Inc., San Jose, CA
Fritz J. Sedlazeck
26Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030
Justin M. Zook
1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899
Article usage
Posted November 19, 2020.
precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
Nathan D. Olson, Justin Wagner, Jennifer McDaniel, Sarah H. Stephens, Samuel T. Westreich, Anish G. Prasanna, Elaine Johanson, Emily Boja, Ezekiel J. Maier, Omar Serang, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, Carlos Flores, Konstantinos Kyriakidis, Andigoni Malousi, Kishwar Shafin, Trevor Pesout, Miten Jain, Benedict Paten, Pi-Chuan Chang, Alexey Kolesnikov, Maria Nattestad, Gunjan Baid, Sidharth Goel, Howard Yang, Andrew Carroll, Robert Eveleigh, Mathieu Bourgey, Guillaume Bourque, Gen Li, MA ChouXian, LinQi Tang, DU YuanPing, ShaoWei Zhang, Jordi Morata, Raúl Tonda, Genís Parra, Jean-Rémi Trotta, Christian Brueffer, Sinem Demirkaya-Budak, Duygu Kabakci-Zorlu, Deniz Turgut, Özem Kalay, Gungor Budak, Kübra Narcı, Elif Arslan, Richard Brown, Ivan J Johnson, Alexey Dolgoborodov, Vladimir Semenyuk, Amit Jain, H. Serhat Tetikol, Varun Jain, Mike Ruehle, Bryan Lajoie, Cooper Roddey, Severine Catreux, Rami Mehio, Umair Ahsan, Qian Liu, Kai Wang, Sayed Mohammad Ebrahim Sahraeian, Li Tai Fang, Marghoob Mohiyuddin, Calvin Hung, Chirag Jain, Hanying Feng, Zhipan Li, Luoqi Chen, Fritz J. Sedlazeck, Justin M. Zook
bioRxiv 2020.11.13.380741; doi: https://doi.org/10.1101/2020.11.13.380741
precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
Nathan D. Olson, Justin Wagner, Jennifer McDaniel, Sarah H. Stephens, Samuel T. Westreich, Anish G. Prasanna, Elaine Johanson, Emily Boja, Ezekiel J. Maier, Omar Serang, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, Carlos Flores, Konstantinos Kyriakidis, Andigoni Malousi, Kishwar Shafin, Trevor Pesout, Miten Jain, Benedict Paten, Pi-Chuan Chang, Alexey Kolesnikov, Maria Nattestad, Gunjan Baid, Sidharth Goel, Howard Yang, Andrew Carroll, Robert Eveleigh, Mathieu Bourgey, Guillaume Bourque, Gen Li, MA ChouXian, LinQi Tang, DU YuanPing, ShaoWei Zhang, Jordi Morata, Raúl Tonda, Genís Parra, Jean-Rémi Trotta, Christian Brueffer, Sinem Demirkaya-Budak, Duygu Kabakci-Zorlu, Deniz Turgut, Özem Kalay, Gungor Budak, Kübra Narcı, Elif Arslan, Richard Brown, Ivan J Johnson, Alexey Dolgoborodov, Vladimir Semenyuk, Amit Jain, H. Serhat Tetikol, Varun Jain, Mike Ruehle, Bryan Lajoie, Cooper Roddey, Severine Catreux, Rami Mehio, Umair Ahsan, Qian Liu, Kai Wang, Sayed Mohammad Ebrahim Sahraeian, Li Tai Fang, Marghoob Mohiyuddin, Calvin Hung, Chirag Jain, Hanying Feng, Zhipan Li, Luoqi Chen, Fritz J. Sedlazeck, Justin M. Zook
bioRxiv 2020.11.13.380741; doi: https://doi.org/10.1101/2020.11.13.380741
Subject Area
Subject Areas
- Biochemistry (4757)
- Bioengineering (3298)
- Bioinformatics (14578)
- Biophysics (6588)
- Cancer Biology (5126)
- Cell Biology (7375)
- Clinical Trials (138)
- Developmental Biology (4315)
- Ecology (6821)
- Epidemiology (2057)
- Evolutionary Biology (9838)
- Genetics (7307)
- Genomics (9467)
- Immunology (4506)
- Microbiology (12586)
- Molecular Biology (4901)
- Neuroscience (28096)
- Paleontology (198)
- Pathology (799)
- Pharmacology and Toxicology (1372)
- Physiology (1993)
- Plant Biology (4448)
- Synthetic Biology (1293)
- Systems Biology (3891)
- Zoology (717)