Protocol for analyzing plasma cell-free DNA fragment end motifs from ultra-low-pass whole-genome sequencing

Circulating cell-free DNA (cfDNA) fragment end motif profiles are a promising biomarker in precision oncology. Here, we present a protocol for analyzing plasma cfDNA fragment end motifs from ultra-low-pass whole-genome sequencing (WGS) data. We detail a pipeline composed of sequential bash scripts for processing post-alignment BAM files. Subsequently, we outline the procedure for downstream analysis and visualization of 4-mer as well as other n-mer cfDNA end motifs in R. For complete details on the use and execution of this protocol, please refer to Liu et al.<sup>1</sup>.

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Publication Details

Journal
STAR Protocols
Published
2024-10-03
DOI
https://doi.org/10.1016/j.xpro.2024.103357
Primary Topic
Cancer Genomics and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00

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article

Protocol for analyzing plasma cell-free DNA fragment end motifs from ultra-low-pass whole-genome sequencing

Lamis Yehia, Charis Eng, Andrew Dhawan, Darren Liu et al.
STAR Protocols
Cancer Genomics and Diagnostics
article

Protocol for analyzing plasma cell-free DNA fragment end motifs from ultra-low-pass whole-genome sequencing

Lamis Yehia, Charis Eng, Andrew Dhawan, Darren Liu, Ying Ni
article en

Abstract

Circulating cell-free DNA (cfDNA) fragment end motif profiles are a promising biomarker in precision oncology. Here, we present a protocol for analyzing plasma cfDNA fragment end motifs from ultra-low-pass whole-genome sequencing (WGS) data. We detail a pipeline composed of sequential bash scripts for processing post-alignment BAM files. Subsequently, we outline the procedure for downstream analysis and visualization of 4-mer as well as other n-mer cfDNA end motifs in R. For complete details on the use and execution of this protocol, please refer to Liu et al.<sup>1</sup>.

STAR ProtocolsVol. 5(4)
Cleveland Clinic (US), Cleveland Clinic Lerner College of Medicine (US)
American Academy of Neurology, Cleveland Clinic, Cleveland Clinic Foundation, PTEN Research
Zero hunger
Openalex Percentile: Top 74%
Cancer Genomics and Diagnostics
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Protocol for analyzing plasma cell-free DNA fragment end motifs from ultra-low-pass whole-genome sequencing — Lamis Yehia, Charis Eng, et al. · STAR Protocols (2024) | TGRS Research Map | TGRS