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SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants.

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Bibliographic Details
Title: SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants.
Authors: Wang Y; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CG Utrecht, the Netherlands., van Dijk C; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CG Utrecht, the Netherlands., Timpanaro I; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CG Utrecht, the Netherlands., Hop P; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Kenna B; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Kooyman M; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Aronica E; Department of (Neuro)Pathology, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands., Pasterkamp RJ; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CG Utrecht, the Netherlands., van den Berg LH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield S10 2HQ, UK., Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Kenna K; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CG Utrecht, the Netherlands. Electronic address: k.p.kenna@umcutrecht.nl.
Corporate Authors: Project MinE ALS Sequencing Consortium, NYGC ALS Consortium
Source: Cell reports methods [Cell Rep Methods] 2025 Oct 20; Vol. 5 (10), pp. 101176. Date of Electronic Publication: 2025 Sep 17.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918227360606676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2667-2375 (Electronic) Linking ISSN: 26672375 NLM ISO Abbreviation: Cell Rep Methods Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2667-2375
DOI:10.1016/j.crmeth.2025.101176