Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies.
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| Title: | Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies. |
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| Authors: | Chan J; Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom., Holdstock J; Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom., Shovelton J; Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom., Reid J; Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom., Speight G; Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom., Molha D; Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom., Pullabhatla V; Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom., Carpenter S; Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom., Uddin E; Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom., Washio T; Life Innovation Center, Riken Genesis Co. LTD, Kawasaki, Kanagawa, Japan.; Division of Clinical Cancer Genomics, Hokkaido University Hospital, Sapporo, Hokkaido, Japan., Sato H; Life Innovation Center, Riken Genesis Co. LTD, Kawasaki, Kanagawa, Japan., Izumi Y; Technology Innovation, Sysmex Corporation, Kobe, Hyogo, Japan., Watanabe R; Medical & Scientific Affairs, Sysmex Corporation, Kobe, Hyogo, Japan., Niiro H; Medical & Scientific Affairs, Sysmex Corporation, Kobe, Hyogo, Japan., Fukushima Y; Medical & Scientific Affairs, Sysmex Corporation, Kobe, Hyogo, Japan., Ashida N; Medical & Scientific Affairs, Sysmex Corporation, Kobe, Hyogo, Japan., Hirose T; Medical & Scientific Affairs, Sysmex Corporation, Kobe, Hyogo, Japan., Maeda A; Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Hyogo, Japan. |
| Source: | PloS one [PLoS One] 2024 Jun 13; Vol. 19 (6), pp. e0305422. Date of Electronic Publication: 2024 Jun 13 (Print Publication: 2024). |
| Publication Type: | Journal Article; Validation Study |
| Journal Info: | Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1932-6203 |
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| DOI: | 10.1371/journal.pone.0305422 |
