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. |
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| 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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| ISSN: | 1471-2164 |
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| DOI: | 10.1186/s12864-022-08365-3 |
