Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
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| Title: | Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. |
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| Authors: | Pagnamenta, Alistair T.1,2 (AUTHOR), Camps, Carme1,2 (AUTHOR), Giacopuzzi, Edoardo1,2,3 (AUTHOR), Taylor, John M.2,4 (AUTHOR), Hashim, Mona1,2 (AUTHOR), Calpena, Eduardo2,5 (AUTHOR), Kaisaki, Pamela J.1,2 (AUTHOR), Hashimoto, Akiko5 (AUTHOR), Yu, Jing1,2 (AUTHOR), Sanders, Edward5 (AUTHOR), Schwessinger, Ron5 (AUTHOR), Hughes, Jim R.5 (AUTHOR), Lunter, Gerton5,6 (AUTHOR), Dreau, Helene2,7 (AUTHOR), Ferla, Matteo1,2 (AUTHOR), Lange, Lukas1,2 (AUTHOR), Kesim, Yesim1,2 (AUTHOR), Ragoussis, Vassilis1,2 (AUTHOR), Vavoulis, Dimitrios V.1,2,7 (AUTHOR), Allroggen, Holger8 (AUTHOR) |
| Source: | Genome Medicine. 11/9/2023, Vol. 15 Issue 1, p1-25. 25p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 173516584 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13073-023-01240-0 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 25 StartPage: 1 Titles: – TitleFull: Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pagnamenta, Alistair T. – PersonEntity: Name: NameFull: Camps, Carme – PersonEntity: Name: NameFull: Giacopuzzi, Edoardo – PersonEntity: Name: NameFull: Taylor, John M. – PersonEntity: Name: NameFull: Hashim, Mona – PersonEntity: Name: NameFull: Calpena, Eduardo – PersonEntity: Name: NameFull: Kaisaki, Pamela J. – PersonEntity: Name: NameFull: Hashimoto, Akiko – PersonEntity: Name: NameFull: Yu, Jing – PersonEntity: Name: NameFull: Sanders, Edward – PersonEntity: Name: NameFull: Schwessinger, Ron – PersonEntity: Name: NameFull: Hughes, Jim R. – PersonEntity: Name: NameFull: Lunter, Gerton – PersonEntity: Name: NameFull: Dreau, Helene – PersonEntity: Name: NameFull: Ferla, Matteo – PersonEntity: Name: NameFull: Lange, Lukas – PersonEntity: Name: NameFull: Kesim, Yesim – PersonEntity: Name: NameFull: Ragoussis, Vassilis – PersonEntity: Name: NameFull: Vavoulis, Dimitrios V. – PersonEntity: Name: NameFull: Allroggen, Holger IsPartOfRelationships: – BibEntity: Dates: – D: 09 M: 11 Text: 11/9/2023 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 1756994X Numbering: – Type: volume Value: 15 – Type: issue Value: 1 Titles: – TitleFull: Genome Medicine Type: main |
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