Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
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| Title: | Nanopore sequencing of 1000 Genomes Project samples 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, WA, USA.; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, USA., Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Damaraju N; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA., Zalusky MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Twesigomwe D; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Yang L; Pacific Northwest Research Institute, Seattle, WA, USA., Snead AA; Department of Biology, New York University, New York, NY, USA., Richmond PA; Alamya Health, Baton Rouge, LA, USA., De Coster W; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Human Technopole, Milan, Italy., Li Q; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Miller AL; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Anderson Z; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Storz SH; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Ward SA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Sinha M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México., Clarke WE; New York Genome Center, New York, NY, USA.; Outlier Informatics Inc., Saskatoon, SK, Canada., Basile AO; New York Genome Center, New York, NY, USA., Corvelo A; New York Genome Center, New York, NY, USA., Reeves C; New York Genome Center, New York, NY, USA., Helland A; New York Genome Center, New York, NY, USA., Musunuri RL; New York Genome Center, New York, NY, USA., Revsine M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Patterson KE; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Paschal CR; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Zakarian C; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Goodwin S; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA., Jensen TD; Department of Genetics, Stanford University, Stanford, CA, USA., Robb E; Department of Computer Science, Stanford University, Stanford, CA, USA., McCombie WR; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA., Sedlazeck FJ; Human Genome Sequencing Center Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Computer Science, Rice University, Houston, TX, USA., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Montgomery SB; Department of Genetics, Stanford University, Stanford, CA, USA., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Kolmogorov M; Cancer Data Science Laboratory, National Cancer Institute, NIH, Bethesda, MD, USA., Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., McLaughlin RN Jr; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, USA.; Pacific Northwest Research Institute, Seattle, WA, USA., Dashnow H; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.; Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA., Zody MC; New York Genome Center, New York, NY, USA., Loose M; Deep Seq, School of Life Sciences, University of Nottingham, Nottingham, England., Jain M; Department of Bioengineering, Department of Physics, Khoury College of Computer Sciences, Northeastern University, Boston, MA., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, 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: | MedRxiv : the preprint server for health sciences [medRxiv] 2024 Mar 07. Date of Electronic Publication: 2024 Mar 07. |
| Publication Type: | Preprint; Journal Article |
| Journal Info: | Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38496498 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Nanopore sequencing of 1000 Genomes Project samples 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, WA, USA.; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Gibson+SB%22">Gibson SB</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Damaraju+N%22">Damaraju N</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Zalusky+MP%22">Zalusky MP</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Hoekzema+K%22">Hoekzema K</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, 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, South Africa.<br /><searchLink fieldCode="AU" term="%22Yang+L%22">Yang L</searchLink>; Pacific Northwest Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Snead+AA%22">Snead AA</searchLink>; Department of Biology, New York University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Richmond+PA%22">Richmond PA</searchLink>; Alamya Health, Baton Rouge, LA, 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, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Olson+ND%22">Olson ND</searchLink>; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, 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, TN, USA.; Human Technopole, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Li+Q%22">Li Q</searchLink>; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Miller+AL%22">Miller AL</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Goffena+J%22">Goffena J</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Anderson+Z%22">Anderson Z</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Storz+SH%22">Storz SH</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Ward+SA%22">Ward SA</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Sinha+M%22">Sinha M</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 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.<br /><searchLink fieldCode="AU" term="%22Clarke+WE%22">Clarke WE</searchLink>; New York Genome Center, New York, NY, USA.; Outlier Informatics Inc., Saskatoon, SK, Canada.<br /><searchLink fieldCode="AU" term="%22Basile+AO%22">Basile AO</searchLink>; New York Genome Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Corvelo+A%22">Corvelo A</searchLink>; New York Genome Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Reeves+C%22">Reeves C</searchLink>; New York Genome Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Helland+A%22">Helland A</searchLink>; New York Genome Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Musunuri+RL%22">Musunuri RL</searchLink>; New York Genome Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Revsine+M%22">Revsine M</searchLink>; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Patterson+KE%22">Patterson KE</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Paschal+CR%22">Paschal CR</searchLink>; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Zakarian+C%22">Zakarian C</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Goodwin+S%22">Goodwin S</searchLink>; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.<br /><searchLink fieldCode="AU" term="%22Jensen+TD%22">Jensen TD</searchLink>; Department of Genetics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Robb+E%22">Robb E</searchLink>; Department of Computer Science, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22McCombie+WR%22">McCombie WR</searchLink>; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.<br /><searchLink fieldCode="AU" term="%22Sedlazeck+FJ%22">Sedlazeck FJ</searchLink>; Human Genome Sequencing Center Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Computer Science, Rice University, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Zook+JM%22">Zook JM</searchLink>; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Montgomery+SB%22">Montgomery SB</searchLink>; Department of Genetics, Stanford University, Stanford, CA, 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, TN, USA.<br /><searchLink fieldCode="AU" term="%22Kolmogorov+M%22">Kolmogorov M</searchLink>; Cancer Data Science Laboratory, National Cancer Institute, NIH, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Schatz+MC%22">Schatz MC</searchLink>; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22McLaughlin+RN+Jr%22">McLaughlin RN Jr</searchLink>; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, USA.; Pacific Northwest Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Dashnow+H%22">Dashnow H</searchLink>; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.; Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Zody+MC%22">Zody MC</searchLink>; New York Genome Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Loose+M%22">Loose M</searchLink>; Deep Seq, School of Life Sciences, University of Nottingham, Nottingham, England.<br /><searchLink fieldCode="AU" term="%22Jain+M%22">Jain M</searchLink>; Department of Bioengineering, Department of Physics, Khoury College of Computer Sciences, Northeastern University, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Eichler+EE%22">Eichler EE</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Miller+DE%22">Miller DE</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, 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="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2024 Mar 07. <i>Date of Electronic Publication: </i>2024 Mar 07. – Name: TypePub Label: Publication Type Group: TypPub Data: Preprint; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38496498 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1101/2024.03.05.24303792 Languages: – Code: eng Text: English Titles: – TitleFull: Nanopore sequencing of 1000 Genomes Project samples 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 MP – 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 Z – PersonEntity: Name: NameFull: Storz SH – 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: 07 M: 03 Text: 2024 Mar 07 Type: published Y: 2024 Titles: – TitleFull: MedRxiv : the preprint server for health sciences Type: main |
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