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

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

Abstract Long-read HiFi genome sequencing allows for accurate detection and direct phasing of single nucleotide variants, indels, and structural variants. Recent algorithmic development enables simultaneous detection of CpG methylation for analysis of regulatory element activity directly in HiFi rea...

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Bibliographic Details
Main Authors: Warren A. Cheung, Adam F. Johnson, William J. Rowell, Emily Farrow, Richard Hall, Ana S. A. Cohen, John C. Means, Tricia N. Zion, Daniel M. Portik, Christopher T. Saunders, Boryana Koseva, Chengpeng Bi, Tina K. Truong, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey J. Johnston, Margaret Gibson, Gilad Evrony, William B. Rizzo, Isabelle Thiffault, Scott T. Younger, Tom Curran, Aaron M. Wenger, Elin Grundberg, Tomi Pastinen
Format: Article
Language:English
Published: Nature Portfolio 2023-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-38782-1

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