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, Yury A1,2, barbitoff@bioinf.me, Ushakov, Mikhail O1, Lazareva, Tatyana E1, Nasykhova, Yulia A1, Glotov, Andrey S1, barbitoff@bioinf.me, Predeus, Alexander V2, barbitoff@bioinf.me |
| Source: | Briefings in Bioinformatics; Mar2024, Vol. 25 Issue 2, p1-15, 15p |
| Database: | Applied Science & Technology Source |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: aci DbLabel: Applied Science & Technology Source An: 176218772 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=176218772 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1093/bib/bbad508 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 15 StartPage: 1 Titles: – TitleFull: Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Barbitoff, Yury A – PersonEntity: Name: NameFull: Ushakov, Mikhail O – PersonEntity: Name: NameFull: Lazareva, Tatyana E – PersonEntity: Name: NameFull: Nasykhova, Yulia A – PersonEntity: Name: NameFull: Glotov, Andrey S – PersonEntity: Name: NameFull: Predeus, Alexander V IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: Mar2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 14675463 Numbering: – Type: volume Value: 25 – Type: issue Value: 2 Titles: – TitleFull: Briefings in Bioinformatics Type: main |
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