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• W4324305906 abstract "Aim: Whole-genome methylation sequencing carries both DNA methylation and structural variant information (single nucleotide variant [SNV]; copy number variant [CNV]); however, limited data is available on the reliability of obtaining this information simultaneously from low-input DNA using various library preparation and sequencing protocols. Methods: A HapMap NA12878 sample was sequenced with three protocols (EM-sequencing, QIA-sequencing and Swift-sequencing) and their performance was compared on CpG methylation measurement and SNV and CNV detection. Results: At low DNA input (10-25 ng), EM-sequencing was superior in almost all metrics except CNV detection where all protocols were similar. EM-sequencing captured the highest number of CpGs and true SNVs. Conclusion: EM-sequencing is suitable to detect methylation, SNVs and CNVs from single sequencing with low-input DNA." @default.
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• W4324305906 date "2023-01-01" @default.
• W4324305906 modified "2023-10-14" @default.
• W4324305906 title "Performance comparisons of methylation and structural variants from low-input whole-genome methylation sequencing" @default.
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• W4324305906 doi "https://doi.org/10.2217/epi-2022-0453" @default.
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