Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA.

doi:10.1038/s41467-023-37768-3

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Article

Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA.

Nature communications - 10 Apr 2023

Bae Mingyun, Kim Gyuhee, Lee Tae-Rim, Ahn Jin Mo, Park Hyunwook, Park Sook Ryun, Song Ki Byung, Jun Eunsung, Oh Dongryul, Lee Jeong-Won, Park Young Sik, Song Ki-Won, Byeon Jeong-Sik, Kim Bo Hyun, Sohn Joo Hyuk, Kim Min Hwan, Kim Gun Min, Chie Eui Kyu, Kang Hyun-Cheol, Kong Sun-Young, Woo Sang Myung, Lee Jeong Eon, Ryu Jai Min, Lee Junnam, Kim Dasom, Ki Chang-Seok, Cho Eun-Hae, Choi Jung Kyoon

Abstract excerpt

Multi-cancer early detection remains a key challenge in cell-free DNA (cfDNA)-based liquid biopsy. Here, we perform cfDNA whole-genome sequencing to generate two test datasets covering 2125 patient samples of 9 cancer types and 1241 normal control samples, and also a reference dataset for background variant filtering based on 20,529 low-depth healthy samples. An external cfDNA dataset consisting of 208 cancer and...

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PMID: 37037826
DOI: 10.1038/s41467-023-37768-3
PMCID: PMC10085982

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