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Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.

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Title: Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.
Authors: Barbitoff YA; Bioinformatics Institute, St. Petersburg, Russia. barbitoff@bioinf.me.; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, St. Petersburg, Russia. barbitoff@bioinf.me.; Department of Genetics and Biotechnology, St. Petersburg State University, St. Petersburg, Russia. barbitoff@bioinf.me., Abasov R; Bioinformatics Institute, St. Petersburg, Russia.; Dmitry Rogachev National Research Center of Pediatric Hematology-Oncology and Immunology, Moscow, Russia., Tvorogova VE; Bioinformatics Institute, St. Petersburg, Russia.; Department of Genetics and Biotechnology, St. Petersburg State University, St. Petersburg, Russia., Glotov AS; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, St. Petersburg, Russia., Predeus AV; Bioinformatics Institute, St. Petersburg, Russia. predeus@gmail.com.
Source: BMC genomics [BMC Genomics] 2022 Feb 22; Vol. 23 (1), pp. 155. Date of Electronic Publication: 2022 Feb 22.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.
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  Data: <searchLink fieldCode="AU" term="%22Barbitoff+YA%22">Barbitoff YA</searchLink>; Bioinformatics Institute, St. Petersburg, Russia. barbitoff@bioinf.me.; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, St. Petersburg, Russia. barbitoff@bioinf.me.; Department of Genetics and Biotechnology, St. Petersburg State University, St. Petersburg, Russia. barbitoff@bioinf.me.<br /><searchLink fieldCode="AU" term="%22Abasov+R%22">Abasov R</searchLink>; Bioinformatics Institute, St. Petersburg, Russia.; Dmitry Rogachev National Research Center of Pediatric Hematology-Oncology and Immunology, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Tvorogova+VE%22">Tvorogova VE</searchLink>; Bioinformatics Institute, St. Petersburg, Russia.; Department of Genetics and Biotechnology, St. Petersburg State University, St. Petersburg, Russia.<br /><searchLink fieldCode="AU" term="%22Glotov+AS%22">Glotov AS</searchLink>; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, St. Petersburg, Russia.<br /><searchLink fieldCode="AU" term="%22Predeus+AV%22">Predeus AV</searchLink>; Bioinformatics Institute, St. Petersburg, Russia. predeus@gmail.com.
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  Data: <searchLink fieldCode="JN" term="%22100965258%22">BMC genomics</searchLink> [BMC Genomics] 2022 Feb 22; Vol. 23 (1), pp. 155. <i>Date of Electronic Publication: </i>2022 Feb 22.
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