Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.

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Title: Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Authors: Steyaert W; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., Haer-Wigman L; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., Hellebrekers D; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands., Steehouwer M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., Hampstead J; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., de Boer E; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Radboud University, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Netherlands., Stegmann A; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands., Yntema H; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands., Brunner H; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Maastricht University Medical Center + , Department of Clinical Genetics, Maastricht, Netherlands., Hoischen A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.; Radboud University Medical Center, Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Nijmegen, Netherlands., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands. christian.gilissen@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands. christian.gilissen@radboudumc.nl.
Source: Nature communications [Nat Commun] 2023 Oct 27; Vol. 14 (1), pp. 6845. Date of Electronic Publication: 2023 Oct 27.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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
Description
ISSN:2041-1723
DOI:10.1038/s41467-023-42531-9