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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.
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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  Data: <searchLink fieldCode="AU" term="%22Barbitoff+YA%22">Barbitoff YA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ushakov+MO%22">Ushakov MO</searchLink>; Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, Mendeleevskaya line 3, 199034, St. Petersburg, Russia.<br /><searchLink fieldCode="AU" term="%22Lazareva+TE%22">Lazareva TE</searchLink>; Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, Mendeleevskaya line 3, 199034, St. Petersburg, Russia.<br /><searchLink fieldCode="AU" term="%22Nasykhova+YA%22">Nasykhova YA</searchLink>; Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, Mendeleevskaya line 3, 199034, St. Petersburg, Russia.<br /><searchLink fieldCode="AU" term="%22Glotov+AS%22">Glotov AS</searchLink>; Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, Mendeleevskaya line 3, 199034, St. Petersburg, Russia.<br /><searchLink fieldCode="AU" term="%22Predeus+AV%22">Predeus AV</searchLink>; Bioinformatics Institute, Kentemirovskaya st. 2A, 197342, St. Petersburg, Russia.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100912837 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1477-4054 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214675463%22">14675463 </searchLink><i>NLM ISO Abbreviation: </i>Brief Bioinform <i>Subsets: </i>MEDLINE
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