A standardized framework for robust fragmentomic feature extraction from cell-free DNA sequencing data

A standardized framework for robust fragmentomic feature extraction from cell-free DNA sequencing data

Abstract Fragmentomics features of cell-free DNA represent promising non-invasive biomarkers for cancer diagnosis. A lack of systematic evaluation of biases in feature quantification hinders the adoption of such applications. We compare features derived from whole-genome sequencing of ten healthy do...

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Main Authors: Haichao Wang, Paulius D. Mennea, Yu Kiu Elkie Chan, Zhao Cheng, Maria C. Neofytou, Arif Anwer Surani, Aadhitthya Vijayaraghavan, Emma-Jane Ditter, Richard Bowers, Matthew D. Eldridge, Dmitry S. Shcherbo, Christopher G. Smith, Florian Markowetz, Wendy N. Cooper, Tommy Kaplan, Nitzan Rosenfeld, Hui Zhao
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Genome Biology
Subjects:
CfDNA
Fragmentomics
Cancer genomics
Feature extraction
Online Access:https://doi.org/10.1186/s13059-025-03607-5
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https://doi.org/10.1186/s13059-025-03607-5

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