Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.
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| Title: | Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges. |
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| Authors: | Barbitoff YA; Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, Mendeleevskaya line 3, 199034, St. Petersburg, Russia.; Bioinformatics Institute, Kentemirovskaya st. 2A, 197342, St. Petersburg, Russia., Ushakov MO; Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, Mendeleevskaya line 3, 199034, St. Petersburg, Russia., Lazareva TE; Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, Mendeleevskaya line 3, 199034, St. Petersburg, Russia., Nasykhova YA; Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, Mendeleevskaya line 3, 199034, St. Petersburg, Russia., Glotov AS; Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, Mendeleevskaya line 3, 199034, St. Petersburg, Russia., Predeus AV; Bioinformatics Institute, Kentemirovskaya st. 2A, 197342, St. Petersburg, Russia. |
| Source: | Briefings in bioinformatics [Brief Bioinform] 2024 Jan 22; Vol. 25 (2). |
| Publication Type: | Review; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN: 1477-4054 (Electronic) Linking ISSN: 14675463 NLM ISO Abbreviation: Brief Bioinform Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1477-4054 |
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| DOI: | 10.1093/bib/bbad508 |
