Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.

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Bibliographic Details
Title: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Authors: Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA; shiatt@hudsonalpha.org gcooper@hudsonalpha.org., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Handley LH; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Bonnstetter ZT; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Boston LB; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Williams M; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Rodriguez Nunez I; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Jenkins J; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA., Lopez MA; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA.; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA.; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA., Schmutz J; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Grimwood J; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA; shiatt@hudsonalpha.org gcooper@hudsonalpha.org.
Source: Genome research [Genome Res] 2024 Nov 20; Vol. 34 (11), pp. 1747-1762. 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, 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
Description
ISSN:1549-5469
DOI:10.1101/gr.279227.124