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Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning.

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Title: Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning.
Authors: Rauch DE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, bcm.edu.; Rice University, Houston, Texas, USA, rice.edu., Wang M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, bcm.edu., Hafiz MJH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, bcm.edu., Brock DC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, bcm.edu.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA, bcm.edu., Li Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA, bcm.edu., Marra M; McGill Ocular Genetics Laboratory and Centre, Department of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada, mcgill.ca., Pennesi ME; Department of Ophthalmology, Oregon Health & Science University Casey Eye Institute, Portland, Oregon, USA.; Retina Foundation of the Southwest, Dallas, Texas, USA., Yang P; Department of Ophthalmology, Oregon Health & Science University Casey Eye Institute, Portland, Oregon, USA., Lesley E; Department of Ophthalmology, Oregon Health & Science University Casey Eye Institute, Portland, Oregon, USA., Lopez I; McGill Ocular Genetics Laboratory and Centre, Department of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada, mcgill.ca., Koenekoop R; McGill Ocular Genetics Laboratory and Centre, Department of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada, mcgill.ca., Collantes ER; Broad Institute, Cambridge, Massachusetts, USA, broadinstitute.org., Bolinao J; American Eye Institute, Pasig, Philippines., Chen R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA, bcm.edu.
Source: Human mutation [Hum Mutat] 2026 Mar 02; Vol. 2026, pp. 3902530. Date of Electronic Publication: 2026 Mar 02 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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