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An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates [version 2; peer review: 1 approved, 3 approved with reservations]

Authors :
Ann M. Mc Cartney
Medhat Mahmoud
Michael Jochum
Daniel Paiva Agustinho
Barry Zorman
Ahmad Al Khleifat
Fawaz Dabbaghie
Rupesh K Kesharwani
Moritz Smolka
Moez Dawood
Dreycey Albin
Elbay Aliyev
Hakeem Almabrazi
Ahmed Arslan
Advait Balaji
Sairam Behera
Kimberley Billingsley
Daniel L Cameron
Joyjit Daw
Eric T. Dawson
Wouter De Coster
Haowei Du
Christopher Dunn
Rocio Esteban
Angad Jolly
Divya Kalra
Chunxiao Liao
Yunxi Liu
Tsung-Yu Lu
James M Havrilla
Michael M Khayat
Maximillian Marin
Jean Monlong
Stephen Price
Alejandro Rafael Gener
Jingwen Ren
Sagayamary Sagayaradj
Nicolae Sapoval
Claude Sinner
Daniela C. Soto
Arda Soylev
Arun Subramaniyan
Najeeb Syed
Neha Tadimeti
Pamella Tater
Pankaj Vats
Justin Vaughn
Kimberly Walker
Gaojianyong Wang
Qiandong Zeng
Shangzhe Zhang
Tingting Zhao
Bryce Kille
Evan Biederstedt
Mark Chaisson
Adam English
Zev Kronenberg
Todd J. Treangen
Timothy Hefferon
Chen-Shan Chin
Ben Busby
Fritz J Sedlazeck
Author Affiliations :
<relatesTo>1</relatesTo>NIH, Washington, USA<br /><relatesTo>2</relatesTo>Baylor College of Medicine, Houston, USA<br /><relatesTo>3</relatesTo>Washington University in St. Louis School of Medicine, St. Louis, USA<br /><relatesTo>4</relatesTo>King's College London, London, UK<br /><relatesTo>5</relatesTo>Institute for Medical Biometry and Bioinformatics, Düsseldorf, Germany<br /><relatesTo>6</relatesTo>University of Vienna, Vienna, Austria<br /><relatesTo>7</relatesTo>University of Colorado at Boulder, Boulder, USA<br /><relatesTo>8</relatesTo>Sidra Medicine, Doha, Qatar<br /><relatesTo>9</relatesTo>Stanford University School of Medicine, California, USA<br /><relatesTo>10</relatesTo>Rice University, Houston, USA<br /><relatesTo>11</relatesTo>Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia<br /><relatesTo>12</relatesTo>NVIDIA Corporation, Santa Clara, California, USA<br /><relatesTo>13</relatesTo>VIB Center for Molecular Neurology, Antwerp, Belgium<br /><relatesTo>14</relatesTo>Pacific Biosciences, Menlo Park, USA<br /><relatesTo>15</relatesTo>Oxford Nanopore Technologies Ltd, Oxford, UK<br /><relatesTo>16</relatesTo>USC, Los Angeles, USA<br /><relatesTo>17</relatesTo>Children’s Hospital of Philadelphia, Philadelphia, USA<br /><relatesTo>18</relatesTo>Harvard Medical School, Boston, USA<br /><relatesTo>19</relatesTo>UC Santa Cruz Genomics Institute, Santa Cruz, USA<br /><relatesTo>20</relatesTo>Carnegie Mellon University, Pittsburgh, USA<br /><relatesTo>21</relatesTo>University of California, Davis, USA<br /><relatesTo>22</relatesTo>University of Texas at Dallas, Richardson, USA<br /><relatesTo>23</relatesTo>Konya Food and Agriculture University, Konya, Turkey<br /><relatesTo>24</relatesTo>University of Michigan, Ann Arbor, USA<br /><relatesTo>25</relatesTo>DNAnexus, Mountain View, USA<br /><relatesTo>26</relatesTo>USDA-ARS, Athens, USA<br /><relatesTo>27</relatesTo>Max Planck Institute for Molecular Genetics, Berlin, Germany<br /><relatesTo>28</relatesTo>Laboratory Corporation of America Holdings, Westborough, USA<br /><relatesTo>29</relatesTo>Lanzhou University, Lanzhou, China<br /><relatesTo>30</relatesTo>University of Pittsburgh, Pittsburgh, USA
Source :
F1000Research. 10:246
Publication Year :
2021
Publisher :
London, UK: F1000 Research Limited, 2021.

Abstract

In October 2020, 62 scientists from nine nations worked together remotely in the Second Baylor College of Medicine & DNAnexus hackathon, focusing on different related topics on Structural Variation, Pan-genomes, and SARS-CoV-2 related research. The overarching focus was to assess the current status of the field and identify the remaining challenges. Furthermore, how to combine the strengths of the different interests to drive research and method development forward. Over the four days, eight groups each designed and developed new open-source methods to improve the identification and analysis of variations among species, including humans and SARS-CoV-2. These included improvements in SV calling, genotyping, annotations and filtering. Together with advancements in benchmarking existing methods. Furthermore, groups focused on the diversity of SARS-CoV-2. Daily discussion summary and methods are available publicly at https://github.com/collaborativebioinformatics provides valuable insights for both participants and the research community.

Details

ISSN :
20461402
Volume :
10
Database :
F1000Research
Journal :
F1000Research
Notes :
Revised Amendments from Version 1 The original submission was updated to 1) update references, 2) provide clarification in tool descriptions, 3) Correct numbers in Table 2, 4) Adjust Figure 11 and 12 to ensure readability of labels and 5) ensure all minor typos were removed., , [version 2; peer review: 1 approved, 3 approved with reservations]
Publication Type :
Academic Journal
Accession number :
edsfor.10.12688.f1000research.51477.2
Document Type :
software-tool
Full Text :
https://doi.org/10.12688/f1000research.51477.2