Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
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| Title: | Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. |
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| Authors: | Molina-Ramírez LP; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Kyle C; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Ellingford JM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Wright R; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Taylor A; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Bhaskar SS; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Campbell C; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Jackson H; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Fairclough A; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Rousseau A; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Burghel GJ; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Dutton L; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Briggs TA; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Clayton-Smith J; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Jones EA; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Kingston HM; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Kerr B; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Ealing J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Department of Neurology, Salford Royal NHS Foundation Trust, Salford, Salford, UK., Somarathi S; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Chandler KE; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Stuart HM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Burkitt-Wright EM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Newman WG; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Bruce IA; Division of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Paediatric ENT Department, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Black GC; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK graeme.black@manchester.ac.uk.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Gokhale D; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK. |
| Source: | Journal of medical genetics [J Med Genet] 2022 Apr; Vol. 59 (4), pp. 393-398. Date of Electronic Publication: 2021 Apr 20. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33879512 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Molina-Ramírez+LP%22">Molina-Ramírez LP</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Kyle+C%22">Kyle C</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Ellingford+JM%22">Ellingford JM</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Wright+R%22">Wright R</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Taylor+A%22">Taylor A</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Bhaskar+SS%22">Bhaskar SS</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Campbell+C%22">Campbell C</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Jackson+H%22">Jackson H</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Fairclough+A%22">Fairclough A</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Rousseau+A%22">Rousseau A</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Burghel+GJ%22">Burghel GJ</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Dutton+L%22">Dutton L</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Briggs+TA%22">Briggs TA</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Clayton-Smith+J%22">Clayton-Smith J</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Douzgou+S%22">Douzgou S</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Jones+EA%22">Jones EA</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Kingston+HM%22">Kingston HM</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Kerr+B%22">Kerr B</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Ealing+J%22">Ealing J</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Department of Neurology, Salford Royal NHS Foundation Trust, Salford, Salford, UK.<br /><searchLink fieldCode="AU" term="%22Somarathi+S%22">Somarathi S</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Chandler+KE%22">Chandler KE</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Stuart+HM%22">Stuart HM</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Burkitt-Wright+EM%22">Burkitt-Wright EM</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Newman+WG%22">Newman WG</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Bruce+IA%22">Bruce IA</searchLink>; Division of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Paediatric ENT Department, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Black+GC%22">Black GC</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK graeme.black@manchester.ac.uk.; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Gokhale+D%22">Gokhale D</searchLink>; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2022 Apr; Vol. 59 (4), pp. 393-398. <i>Date of Electronic Publication: </i>2021 Apr 20. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33879512 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1136/jmedgenet-2020-107303 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 393 Titles: – TitleFull: Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Molina-Ramírez LP – PersonEntity: Name: NameFull: Kyle C – PersonEntity: Name: NameFull: Ellingford JM – PersonEntity: Name: NameFull: Wright R – PersonEntity: Name: NameFull: Taylor A – PersonEntity: Name: NameFull: Bhaskar SS – PersonEntity: Name: NameFull: Campbell C – PersonEntity: Name: NameFull: Jackson H – PersonEntity: Name: NameFull: Fairclough A – PersonEntity: Name: NameFull: Rousseau A – PersonEntity: Name: NameFull: Burghel GJ – PersonEntity: Name: NameFull: Dutton L – PersonEntity: Name: NameFull: Banka S – PersonEntity: Name: NameFull: Briggs TA – PersonEntity: Name: NameFull: Clayton-Smith J – PersonEntity: Name: NameFull: Douzgou S – PersonEntity: Name: NameFull: Jones EA – PersonEntity: Name: NameFull: Kingston HM – PersonEntity: Name: NameFull: Kerr B – PersonEntity: Name: NameFull: Ealing J – PersonEntity: Name: NameFull: Somarathi S – PersonEntity: Name: NameFull: Chandler KE – PersonEntity: Name: NameFull: Stuart HM – PersonEntity: Name: NameFull: Burkitt-Wright EM – PersonEntity: Name: NameFull: Newman WG – PersonEntity: Name: NameFull: Bruce IA – PersonEntity: Name: NameFull: Black GC – PersonEntity: Name: NameFull: Gokhale D IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2022 Apr Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1468-6244 Numbering: – Type: volume Value: 59 – Type: issue Value: 4 Titles: – TitleFull: Journal of medical genetics Type: main |
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