Concepedia

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Stephanie C. Bohaczuk, Yizi Mao, Yong-Han Hank Cheng, Jane Ranchalis, Elizabeth Blue,

Nature Genetics · 2025 · 32 citations · 50 references

DOIFull text

Open access

Concepts

References

50

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

, , +13

Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm

Nature Methods · 2021 · 5.5K citations · Full text

, , +11

The complete sequence of a human genome

Sergey Nurk, Sergey Koren, Arang Rhie et al. · Science · 2022 · 3.3K citations · Full text

, , +15

methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles

Altuna Akalin, Matthías Kormáksson, Sheng Li et al. · Genome biology · 2012 · 2.4K citations · Full text

, , +17

Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study

Michelle Landon, Jennifer Saam, Krystal Brown et al. · Oncology · 2015 · 1.9K citations · Full text

, , +17