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. |
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| 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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| ISSN: | 2041-1723 |
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| DOI: | 10.1038/s41467-025-57505-2 |
