Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1098-1004 |
|---|---|
| DOI: | 10.1155/humu/3902530 |
