Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus
IntroductionLong-read sequencing (LRS) enables accurate structural variant detection and variant phasing. When a molecular diagnosis is suspected, target enrichment can reduce the cost and duration of sequencing.MethodsLRS was conducted in five inherited retinal dystrophy (IRD) patients harboring a...
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| Huvudupphov: | , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
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Frontiers Media S.A.
2024-10-01
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| Serie: | Frontiers in Genetics |
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| Länkar: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1439153/full |
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