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nanopore sequencing of CFH-gene cluster region

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https://www.ncbi.nlm.nih.gov/sra/SRP415251
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The CFH-gene cluster region is a medically relevant, but hard-to-study genomic locus due to its repetitive sequence. Using long-read nanopore sequencing and the high-quality T2T-CHM13 assembly as a reference could improve its analysis, but the assembly carries a polymorphic deletion at this locus. The goal of this study was to evaluate the impact of this deletion on the study of this locus.
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2022-12-31
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