F1000Res
. 2021 Mar 26;10:246.
doi: 10.12688/f1000research.51477.2. eCollection 2021.
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates
Ann M Mc Cartney 1 , Medhat Mahmoud 2 , Michael Jochum 2 , Daniel Paiva Agustinho 3 , Barry Zorman 2 , Ahmad Al Khleifat 4 , Fawaz Dabbaghie 5 , Rupesh K Kesharwani 2 , Moritz Smolka 6 , Moez Dawood 2 , Dreycey Albin 7 , Elbay Aliyev 8 , Hakeem Almabrazi 8 , Ahmed Arslan 9 , Advait Balaji 10 , Sairam Behera 2 , Kimberley Billingsley 1 , Daniel L Cameron 11 , Joyjit Daw 12 , Eric T Dawson 12 , Wouter De Coster 13 , Haowei Du 2 , Christopher Dunn 14 , Rocio Esteban 15 , Angad Jolly 2 , Divya Kalra 2 , Chunxiao Liao 10 , Yunxi Liu 10 , Tsung-Yu Lu 16 , James M Havrilla 17 , Michael M Khayat 2 , Maximillian Marin 18 , Jean Monlong 19 , Stephen Price 20 , Alejandro Rafael Gener 2 , Jingwen Ren 16 , Sagayamary Sagayaradj 21 , Nicolae Sapoval 10 , Claude Sinner 22 , Daniela C Soto 21 , Arda Soylev 23 , Arun Subramaniyan 24 , Najeeb Syed 8 , Neha Tadimeti 12 , Pamella Tater 25 , Pankaj Vats 12 , Justin Vaughn 26 , Kimberly Walker 2 , Gaojianyong Wang 27 , Qiandong Zeng 28 , Shangzhe Zhang 29 , Tingting Zhao 30 , Bryce Kille 10 , Evan Biederstedt 18 , Mark Chaisson 16 , Adam English 2 , Zev Kronenberg 14 , Todd J Treangen 10 , Timothy Hefferon 1 , Chen-Shan Chin 25 , Ben Busby 25 , Fritz J Sedlazeck 2
Affiliations
- PMID: 34621504
- PMCID: PMC8479851
- DOI: 10.12688/f1000research.51477.2
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.
Keywords: CNV; NextGeneration Sequencing; SARS-CoV-2; Structural variant.