High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.
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| Title: | High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. |
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| Authors: | Gustafson JA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Molecular and Cellular Biology Program, University of Washington, Seattle, Washington 98195, USA., Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Damaraju N; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Institute for Public Health Genetics, University of Washington, Seattle, Washington 98195, USA., Zalusky MPG; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Twesigomwe D; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa., Yang L; Pacific Northwest Research Institute, Seattle, Washington 98122, USA., Snead AA; Department of Biology, New York University, New York, New York 10003, USA., Richmond PA; Alamya Health, Baton Rouge, Louisiana 70806, USA., De Coster W; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2650, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp 2000, Belgium., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.; Human Technopole, Milan 20157, Italy., Li Q; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA., Miller AL; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Anderson ZB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Storz SHR; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Ward SA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Sinha M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Mexico City 76230, Mexico., Clarke WE; New York Genome Center, New York, New York 10013, USA.; Outlier Informatics Inc., Saskatoon, Saskatchewan S7H 1L4, Canada., Basile AO; New York Genome Center, New York, New York 10013, USA., Corvelo A; New York Genome Center, New York, New York 10013, USA., Reeves C; New York Genome Center, New York, New York 10013, USA., Helland A; New York Genome Center, New York, New York 10013, USA., Musunuri RL; New York Genome Center, New York, New York 10013, USA., Revsine M; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA., Patterson KE; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Paschal CR; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington 98195, USA.; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington 98195, USA., Zakarian C; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Goodwin S; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA., Jensen TD; Department of Genetics, Stanford University, Stanford, California 94305, USA., Robb E; Department of Computer Science, Stanford University, Stanford, California 94305, USA., McCombie WR; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Department of Computer Science, Rice University, Houston, Texas 77251, USA., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA., Montgomery SB; Department of Genetics, Stanford University, Stanford, California 94305, USA., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA., Kolmogorov M; Cancer Data Science Laboratory, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA., Schatz MC; Human Technopole, Milan 20157, Italy., McLaughlin RN Jr; Molecular and Cellular Biology Program, University of Washington, Seattle, Washington 98195, USA.; Pacific Northwest Research Institute, Seattle, Washington 98122, USA., Dashnow H; Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA.; Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA., Zody MC; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Mexico City 76230, Mexico., Loose M; Deep Seq, School of Life Sciences, University of Nottingham, Nottingham NG7 2TQ, UK., Jain M; Department of Bioengineering, Northeastern University, Boston, Massachusetts 02115, USA.; Department of Physics, Northeastern University, Boston, Massachusetts 02115, USA.; Khoury College of Computer Sciences, Northeastern University, Boston, Massachusetts 02115, USA., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, Washington 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA; dm1@uw.edu.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, Washington 98195, USA. |
| Corporate Authors: | 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CRDR), Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium |
| Source: | Genome research [Genome Res] 2024 Nov 20; Vol. 34 (11), pp. 2061-2073. Date of Electronic Publication: 2024 Nov 20. |
| Publication Type: | Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39358015 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Gustafson+JA%22">Gustafson JA</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Molecular and Cellular Biology Program, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Gibson+SB%22">Gibson SB</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Damaraju+N%22">Damaraju N</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Institute for Public Health Genetics, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Zalusky+MPG%22">Zalusky MPG</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Hoekzema+K%22">Hoekzema K</searchLink>; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Twesigomwe+D%22">Twesigomwe D</searchLink>; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa.<br /><searchLink fieldCode="AU" term="%22Yang+L%22">Yang L</searchLink>; Pacific Northwest Research Institute, Seattle, Washington 98122, USA.<br /><searchLink fieldCode="AU" term="%22Snead+AA%22">Snead AA</searchLink>; Department of Biology, New York University, New York, New York 10003, USA.<br /><searchLink fieldCode="AU" term="%22Richmond+PA%22">Richmond PA</searchLink>; Alamya Health, Baton Rouge, Louisiana 70806, USA.<br /><searchLink fieldCode="AU" term="%22De+Coster+W%22">De Coster W</searchLink>; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2650, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp 2000, Belgium.<br /><searchLink fieldCode="AU" term="%22Olson+ND%22">Olson ND</searchLink>; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA.<br /><searchLink fieldCode="AU" term="%22Guarracino+A%22">Guarracino A</searchLink>; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.; Human Technopole, Milan 20157, Italy.<br /><searchLink fieldCode="AU" term="%22Li+Q%22">Li Q</searchLink>; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA.<br /><searchLink fieldCode="AU" term="%22Miller+AL%22">Miller AL</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Goffena+J%22">Goffena J</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Anderson+ZB%22">Anderson ZB</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Storz+SHR%22">Storz SHR</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Ward+SA%22">Ward SA</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Sinha+M%22">Sinha M</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Gonzaga-Jauregui+C%22">Gonzaga-Jauregui C</searchLink>; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Mexico City 76230, Mexico.<br /><searchLink fieldCode="AU" term="%22Clarke+WE%22">Clarke WE</searchLink>; New York Genome Center, New York, New York 10013, USA.; Outlier Informatics Inc., Saskatoon, Saskatchewan S7H 1L4, Canada.<br /><searchLink fieldCode="AU" term="%22Basile+AO%22">Basile AO</searchLink>; New York Genome Center, New York, New York 10013, USA.<br /><searchLink fieldCode="AU" term="%22Corvelo+A%22">Corvelo A</searchLink>; New York Genome Center, New York, New York 10013, USA.<br /><searchLink fieldCode="AU" term="%22Reeves+C%22">Reeves C</searchLink>; New York Genome Center, New York, New York 10013, USA.<br /><searchLink fieldCode="AU" term="%22Helland+A%22">Helland A</searchLink>; New York Genome Center, New York, New York 10013, USA.<br /><searchLink fieldCode="AU" term="%22Musunuri+RL%22">Musunuri RL</searchLink>; New York Genome Center, New York, New York 10013, USA.<br /><searchLink fieldCode="AU" term="%22Revsine+M%22">Revsine M</searchLink>; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA.<br /><searchLink fieldCode="AU" term="%22Patterson+KE%22">Patterson KE</searchLink>; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Paschal+CR%22">Paschal CR</searchLink>; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington 98195, USA.; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Zakarian+C%22">Zakarian C</searchLink>; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Goodwin+S%22">Goodwin S</searchLink>; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.<br /><searchLink fieldCode="AU" term="%22Jensen+TD%22">Jensen TD</searchLink>; Department of Genetics, Stanford University, Stanford, California 94305, USA.<br /><searchLink fieldCode="AU" term="%22Robb+E%22">Robb E</searchLink>; Department of Computer Science, Stanford University, Stanford, California 94305, USA.<br /><searchLink fieldCode="AU" term="%22McCombie+WR%22">McCombie WR</searchLink>; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.<br /><searchLink fieldCode="AU" term="%22Sedlazeck+FJ%22">Sedlazeck FJ</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Department of Computer Science, Rice University, Houston, Texas 77251, USA.<br /><searchLink fieldCode="AU" term="%22Zook+JM%22">Zook JM</searchLink>; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA.<br /><searchLink fieldCode="AU" term="%22Montgomery+SB%22">Montgomery SB</searchLink>; Department of Genetics, Stanford University, Stanford, California 94305, USA.<br /><searchLink fieldCode="AU" term="%22Garrison+E%22">Garrison E</searchLink>; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.<br /><searchLink fieldCode="AU" term="%22Kolmogorov+M%22">Kolmogorov M</searchLink>; Cancer Data Science Laboratory, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA.<br /><searchLink fieldCode="AU" term="%22Schatz+MC%22">Schatz MC</searchLink>; Human Technopole, Milan 20157, Italy.<br /><searchLink fieldCode="AU" term="%22McLaughlin+RN+Jr%22">McLaughlin RN Jr</searchLink>; Molecular and Cellular Biology Program, University of Washington, Seattle, Washington 98195, USA.; Pacific Northwest Research Institute, Seattle, Washington 98122, USA.<br /><searchLink fieldCode="AU" term="%22Dashnow+H%22">Dashnow H</searchLink>; Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA.; Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA.<br /><searchLink fieldCode="AU" term="%22Zody+MC%22">Zody MC</searchLink>; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Mexico City 76230, Mexico.<br /><searchLink fieldCode="AU" term="%22Loose+M%22">Loose M</searchLink>; Deep Seq, School of Life Sciences, University of Nottingham, Nottingham NG7 2TQ, UK.<br /><searchLink fieldCode="AU" term="%22Jain+M%22">Jain M</searchLink>; Department of Bioengineering, Northeastern University, Boston, Massachusetts 02115, USA.; Department of Physics, Northeastern University, Boston, Massachusetts 02115, USA.; Khoury College of Computer Sciences, Northeastern University, Boston, Massachusetts 02115, USA.<br /><searchLink fieldCode="AU" term="%22Eichler+EE%22">Eichler EE</searchLink>; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, Washington 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA.<br /><searchLink fieldCode="AU" term="%22Miller+DE%22">Miller DE</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA; dm1@uw.edu.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, Washington 98195, USA. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%221000+Genomes+ONT+Sequencing+Consortium%22">1000 Genomes ONT Sequencing Consortium</searchLink><br /><searchLink fieldCode="CA" term="%22University+of+Washington+Center+for+Rare+Disease+Research+%28UW-CRDR%29%22">University of Washington Center for Rare Disease Research (UW-CRDR)</searchLink><br /><searchLink fieldCode="CA" term="%22Genomics+Research+to+Elucidate+the+Genetics+of+Rare+Diseases+%28GREGoR%29+Consortium%22">Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229518021%22">Genome research</searchLink> [Genome Res] 2024 Nov 20; Vol. 34 (11), pp. 2061-2073. <i>Date of Electronic Publication: </i>2024 Nov 20. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cold+Spring+Harbor+Laboratory+Press%22">Cold Spring Harbor Laboratory Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9518021 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1549-5469 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210889051%22">10889051 </searchLink><i>NLM ISO Abbreviation: </i>Genome Res <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1101/gr.279273.124 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2061 Titles: – TitleFull: High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gustafson JA – PersonEntity: Name: NameFull: Gibson SB – PersonEntity: Name: NameFull: Damaraju N – PersonEntity: Name: NameFull: Zalusky MPG – PersonEntity: Name: NameFull: Hoekzema K – PersonEntity: Name: NameFull: Twesigomwe D – PersonEntity: Name: NameFull: Yang L – PersonEntity: Name: NameFull: Snead AA – PersonEntity: Name: NameFull: Richmond PA – PersonEntity: Name: NameFull: De Coster W – PersonEntity: Name: NameFull: Olson ND – PersonEntity: Name: NameFull: Guarracino A – PersonEntity: Name: NameFull: Li Q – PersonEntity: Name: NameFull: Miller AL – PersonEntity: Name: NameFull: Goffena J – PersonEntity: Name: NameFull: Anderson ZB – PersonEntity: Name: NameFull: Storz SHR – PersonEntity: Name: NameFull: Ward SA – PersonEntity: Name: NameFull: Sinha M – PersonEntity: Name: NameFull: Gonzaga-Jauregui C – PersonEntity: Name: NameFull: Clarke WE – PersonEntity: Name: NameFull: Basile AO – PersonEntity: Name: NameFull: Corvelo A – PersonEntity: Name: NameFull: Reeves C – PersonEntity: Name: NameFull: Helland A – PersonEntity: Name: NameFull: Musunuri RL – PersonEntity: Name: NameFull: Revsine M – PersonEntity: Name: NameFull: Patterson KE – PersonEntity: Name: NameFull: Paschal CR – PersonEntity: Name: NameFull: Zakarian C – PersonEntity: Name: NameFull: Goodwin S – PersonEntity: Name: NameFull: Jensen TD – PersonEntity: Name: NameFull: Robb E – PersonEntity: Name: NameFull: McCombie WR – PersonEntity: Name: NameFull: Sedlazeck FJ – PersonEntity: Name: NameFull: Zook JM – PersonEntity: Name: NameFull: Montgomery SB – PersonEntity: Name: NameFull: Garrison E – PersonEntity: Name: NameFull: Kolmogorov M – PersonEntity: Name: NameFull: Schatz MC – PersonEntity: Name: NameFull: McLaughlin RN Jr – PersonEntity: Name: NameFull: Dashnow H – PersonEntity: Name: NameFull: Zody MC – PersonEntity: Name: NameFull: Loose M – PersonEntity: Name: NameFull: Jain M – PersonEntity: Name: NameFull: Eichler EE – PersonEntity: Name: NameFull: Miller DE IsPartOfRelationships: – BibEntity: Dates: – D: 20 M: 11 Text: 2024 Nov 20 Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1549-5469 Numbering: – Type: volume Value: 34 – Type: issue Value: 11 Titles: – TitleFull: Genome research Type: main |
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