Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses.
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| Title: | Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses. |
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| Authors: | Sealock JM; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. jsealock@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. jsealock@broadinstitute.org., Ivankovic F; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Liao C; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chen S; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Churchhouse C; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Karczewski KJ; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Howrigan DP; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Neale BM; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA. |
| Source: | Nature protocols [Nat Protoc] 2025 Sep; Vol. 20 (9), pp. 2372-2382. Date of Electronic Publication: 2025 Mar 28. |
| Publication Type: | Journal Article; Review |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101284307 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1750-2799 (Electronic) Linking ISSN: 17502799 NLM ISO Abbreviation: Nat Protoc Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40155705 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Sealock+JM%22">Sealock JM</searchLink>; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. jsealock@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. jsealock@broadinstitute.org.<br /><searchLink fieldCode="AU" term="%22Ivankovic+F%22">Ivankovic F</searchLink>; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Liao+C%22">Liao C</searchLink>; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Chen+S%22">Chen S</searchLink>; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Churchhouse+C%22">Churchhouse C</searchLink>; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Karczewski+KJ%22">Karczewski KJ</searchLink>; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Howrigan+DP%22">Howrigan DP</searchLink>; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Neale+BM%22">Neale BM</searchLink>; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101284307%22">Nature protocols</searchLink> [Nat Protoc] 2025 Sep; Vol. 20 (9), pp. 2372-2382. <i>Date of Electronic Publication: </i>2025 Mar 28. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101284307 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-2799 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217502799%22">17502799 </searchLink><i>NLM ISO Abbreviation: </i>Nat Protoc <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41596-025-01169-1 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2372 Titles: – TitleFull: Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Sealock JM – PersonEntity: Name: NameFull: Ivankovic F – PersonEntity: Name: NameFull: Liao C – PersonEntity: Name: NameFull: Chen S – PersonEntity: Name: NameFull: Churchhouse C – PersonEntity: Name: NameFull: Karczewski KJ – PersonEntity: Name: NameFull: Howrigan DP – PersonEntity: Name: NameFull: Neale BM IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: 2025 Sep Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1750-2799 Numbering: – Type: volume Value: 20 – Type: issue Value: 9 Titles: – TitleFull: Nature protocols Type: main |
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