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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.

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Title: Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.
Authors: Chen X; PacBio, Menlo Park, CA, USA. xchen@pacificbiosciences.com., Baker D; PacBio, Menlo Park, CA, USA., Dolzhenko E; PacBio, Menlo Park, CA, USA., Devaney JM; GeneDx, Gaithersburg, MD, USA., Noya J; GeneDx, Gaithersburg, MD, USA., Berlyoung AS; GeneDx, Gaithersburg, MD, USA., Brandon R; GeneDx, Gaithersburg, MD, USA., Hruska KS; GeneDx, Gaithersburg, MD, USA., Lochovsky L; GeneDx, Gaithersburg, MD, USA., Kruszka P; GeneDx, Gaithersburg, MD, USA., Newman S; GeneDx, Gaithersburg, MD, USA., Farrow E; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA., Thiffault I; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA., Kasperaviciute D; Genomics England Ltd., London, UK., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands., Berger S; Center for Genetics Medicine Research, Children's National Hospital, Washington, DC, USA., Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA., Délot E; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA., Eberle MA; PacBio, Menlo Park, CA, USA. meberle@pacificbiosciences.com.
Corporate Authors: UCI Genomics Research to Elucidate the Genetics of Rare diseases (UCI GREGoR) Consortium
Source: Nature communications [Nat Commun] 2025 Mar 08; Vol. 16 (1), pp. 2340. Date of Electronic Publication: 2025 Mar 08.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Chen+X%22">Chen X</searchLink>; PacBio, Menlo Park, CA, USA. xchen@pacificbiosciences.com.<br /><searchLink fieldCode="AU" term="%22Baker+D%22">Baker D</searchLink>; PacBio, Menlo Park, CA, USA.<br /><searchLink fieldCode="AU" term="%22Dolzhenko+E%22">Dolzhenko E</searchLink>; PacBio, Menlo Park, CA, USA.<br /><searchLink fieldCode="AU" term="%22Devaney+JM%22">Devaney JM</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Noya+J%22">Noya J</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Berlyoung+AS%22">Berlyoung AS</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Brandon+R%22">Brandon R</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Hruska+KS%22">Hruska KS</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Lochovsky+L%22">Lochovsky L</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Kruszka+P%22">Kruszka P</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Newman+S%22">Newman S</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Farrow+E%22">Farrow E</searchLink>; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Thiffault+I%22">Thiffault I</searchLink>; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Pastinen+T%22">Pastinen T</searchLink>; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Kasperaviciute+D%22">Kasperaviciute D</searchLink>; Genomics England Ltd., London, UK.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vissers+L%22">Vissers L</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoischen+A%22">Hoischen A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Berger+S%22">Berger S</searchLink>; Center for Genetics Medicine Research, Children's National Hospital, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Vilain+E%22">Vilain E</searchLink>; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.<br /><searchLink fieldCode="AU" term="%22Délot+E%22">Délot E</searchLink>; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.<br /><searchLink fieldCode="AU" term="%22Eberle+MA%22">Eberle MA</searchLink>; PacBio, Menlo Park, CA, USA. meberle@pacificbiosciences.com.
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