New Results
Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes
Justin Wagner, Nathan D Olson, Lindsay Harris, Jennifer McDaniel, Haoyu Cheng, Arkarachai Fungtammasan, Yih-Chii Hwang, Richa Gupta, Aaron M Wenger, William J Rowell, Ziad M Khan, Jesse Farek, Yiming Zhu, Aishwarya Pisupati, Medhat Mahmoud, Chunlin Xiao, Byunggil Yoo, Sayed Mohammad Ebrahim Sahraeian, View ORCID ProfileDanny E. Miller, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, View ORCID ProfileCarlos Flores, View ORCID ProfileGiuseppe Narzisi, Uday Shanker Evani, Wayne E. Clarke, Joyce Lee, View ORCID ProfileChristopher E. Mason, Stephen E. Lincoln, Karen H. Miga, Mark T. W. Ebbert, Alaina Shumate, Heng Li, Chen-Shan Chin, View ORCID ProfileJustin M Zook, Fritz J Sedlazeck
doi: https://doi.org/10.1101/2021.06.07.444885
Justin Wagner
1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899
Nathan D Olson
1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899
Lindsay Harris
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
Haoyu Cheng
2Department of Data Science, Dana-Farber Cancer Institute, Boston, MA 02215
Arkarachai Fungtammasan
3DNAnexus Inc., Mountain View, CA 94040
Yih-Chii Hwang
3DNAnexus Inc., Mountain View, CA 94040
Richa Gupta
3DNAnexus Inc., Mountain View, CA 94040
Aaron M Wenger
4Pacific Biosciences, Menlo Park, CA 94025
William J Rowell
4Pacific Biosciences, Menlo Park, CA 94025
Ziad M Khan
5Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030
Jesse Farek
5Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030
Yiming Zhu
5Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030
Aishwarya Pisupati
5Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030
Medhat Mahmoud
5Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030
Chunlin Xiao
6National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD 20894, USA
Byunggil Yoo
7Genomic Medicine Center, Children’s Mercy Kansas City, 2401 Gillham Rd, Kansas City, MO 64108
Sayed Mohammad Ebrahim Sahraeian
8Roche Sequencing Solutions, Santa Clara, CA, 95050, USA
Danny E. Miller
9Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children’s Hospital, Seattle, WA; Department of Genome Sciences, University of Washington, Seattle, WA
David Jáspez
10Genomics División, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain
José M. Lorenzo-Salazar
10Genomics División, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain
Adrián Muñoz-Barrera
10Genomics División, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain
Luis A. Rubio-Rodríguez
10Genomics División, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain
Carlos Flores
10Genomics División, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain
11CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain; Research Unit, Hospital Universitario N.S. de Candelaria, Santa Cruz de Tenerife, Spain
Giuseppe Narzisi
12New York Genome Center, New York, NY, USA
Uday Shanker Evani
12New York Genome Center, New York, NY, USA
Wayne E. Clarke
12New York Genome Center, New York, NY, USA
Joyce Lee
13Bionano Genomics, Inc. 9540 Towne Centre Drive, Ste. 100, San Diego, CA 92121
Christopher E. Mason
14Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA
Stephen E. Lincoln
15Invitae, 1400 16th Street, San Francisco, CA 94103, USA
Karen H. Miga
16UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA
Mark T. W. Ebbert
17Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY 40536, USA; Department of Internal Medicine, Division of Biomedical Informatics, University of Kentucky, Lexington, KY 40536, USA; Department of Neuroscience, University of Kentucky, Lexington, KY 40536, USA
Alaina Shumate
18Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218; Center for Computational Biology, Whiting School of Engineering, Johns Hopkins University, Baltimore, MD 21211
Heng Li
2Department of Data Science, Dana-Farber Cancer Institute, Boston, MA 02215
Chen-Shan Chin
3DNAnexus Inc., Mountain View, CA 94040
Justin M Zook
1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899
Fritz J Sedlazeck
5Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030
Posted October 01, 2021.
Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes
Justin Wagner, Nathan D Olson, Lindsay Harris, Jennifer McDaniel, Haoyu Cheng, Arkarachai Fungtammasan, Yih-Chii Hwang, Richa Gupta, Aaron M Wenger, William J Rowell, Ziad M Khan, Jesse Farek, Yiming Zhu, Aishwarya Pisupati, Medhat Mahmoud, Chunlin Xiao, Byunggil Yoo, Sayed Mohammad Ebrahim Sahraeian, Danny E. Miller, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, Carlos Flores, Giuseppe Narzisi, Uday Shanker Evani, Wayne E. Clarke, Joyce Lee, Christopher E. Mason, Stephen E. Lincoln, Karen H. Miga, Mark T. W. Ebbert, Alaina Shumate, Heng Li, Chen-Shan Chin, Justin M Zook, Fritz J Sedlazeck
bioRxiv 2021.06.07.444885; doi: https://doi.org/10.1101/2021.06.07.444885
Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes
Justin Wagner, Nathan D Olson, Lindsay Harris, Jennifer McDaniel, Haoyu Cheng, Arkarachai Fungtammasan, Yih-Chii Hwang, Richa Gupta, Aaron M Wenger, William J Rowell, Ziad M Khan, Jesse Farek, Yiming Zhu, Aishwarya Pisupati, Medhat Mahmoud, Chunlin Xiao, Byunggil Yoo, Sayed Mohammad Ebrahim Sahraeian, Danny E. Miller, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, Carlos Flores, Giuseppe Narzisi, Uday Shanker Evani, Wayne E. Clarke, Joyce Lee, Christopher E. Mason, Stephen E. Lincoln, Karen H. Miga, Mark T. W. Ebbert, Alaina Shumate, Heng Li, Chen-Shan Chin, Justin M Zook, Fritz J Sedlazeck
bioRxiv 2021.06.07.444885; doi: https://doi.org/10.1101/2021.06.07.444885
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