Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
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| Title: | Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome. |
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| Authors: | Scott A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Division of Genetic Medicine, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Hernandez F; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Chamberlin A; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Smith C; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Karam R; Ambry Genetics, Aliso Viejo, CA, 92656, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Kitzman JO; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. kitzmanj@umich.edu.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. kitzmanj@umich.edu. |
| Source: | Genome biology [Genome Biol] 2022 Dec 22; Vol. 23 (1), pp. 266. Date of Electronic Publication: 2022 Dec 22. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36550560 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Scott+A%22">Scott A</searchLink>; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Division of Genetic Medicine, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.<br /><searchLink fieldCode="AU" term="%22Hernandez+F%22">Hernandez F</searchLink>; Ambry Genetics, Aliso Viejo, CA, 92656, USA.<br /><searchLink fieldCode="AU" term="%22Chamberlin+A%22">Chamberlin A</searchLink>; Ambry Genetics, Aliso Viejo, CA, 92656, USA.<br /><searchLink fieldCode="AU" term="%22Smith+C%22">Smith C</searchLink>; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.<br /><searchLink fieldCode="AU" term="%22Karam+R%22">Karam R</searchLink>; Ambry Genetics, Aliso Viejo, CA, 92656, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.<br /><searchLink fieldCode="AU" term="%22Kitzman+JO%22">Kitzman JO</searchLink>; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. kitzmanj@umich.edu.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. kitzmanj@umich.edu. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100960660%22">Genome biology</searchLink> [Genome Biol] 2022 Dec 22; Vol. 23 (1), pp. 266. <i>Date of Electronic Publication: </i>2022 Dec 22. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central+Ltd%22">BioMed Central Ltd </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100960660 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1474-760X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214747596%22">14747596 </searchLink><i>NLM ISO Abbreviation: </i>Genome Biol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36550560 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13059-022-02839-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 266 Titles: – TitleFull: Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Scott A – PersonEntity: Name: NameFull: Hernandez F – PersonEntity: Name: NameFull: Chamberlin A – PersonEntity: Name: NameFull: Smith C – PersonEntity: Name: NameFull: Karam R – PersonEntity: Name: NameFull: Kitzman JO IsPartOfRelationships: – BibEntity: Dates: – D: 22 M: 12 Text: 2022 Dec 22 Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1474-760X Numbering: – Type: volume Value: 23 – Type: issue Value: 1 Titles: – TitleFull: Genome biology Type: main |
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