Article

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

2022-09-15

Abstract excerpt

Long-read HiFi genome sequencing (GS) allows for accurate detection and direct phasing of single nucleotide variants (SNV), indels, and structural variants (SV). Recent algorithmic development enables simultaneous detection of CpG methylation (mCpG) for analysis of regulatory element (RE) activity directly in HiFi-GS. We generated a comprehensive haplotype-resolved HiFi-GS dataset from a rare disease cohort of 276...

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Literature Corpus work: 081017e6-0a7b-50c1-a418-3aaf3b4fa183
DOI: 10.1101/2022.09.12.22279739

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