Finding new cancer epigenetic and genetic biomarkers from cell-free DNA by combining SALP-seq and machine learning

Autor: Xin-Yi Xia, Weiwei Li, Hongde Liu, Jinke Wang, Qiang Xia, Jian Wu, Shicai Liu
Jazyk: angličtina
Rok vydání: 2020
Předmět:
TF
transcription factor

Esophageal cancer
computer.software_genre
CTC
circulating tumor cell

Biochemistry
TFBS
TF binding site

Cell-free DNA
0302 clinical medicine
Structural Biology
ATAC-seq
Assay for Transposase-Accessible Chromatin-sequencing and high-throughput sequencing

miRNA
microRNA

cfMeDIP-seq
cell-free methylated DNA immunoprecipitation and high-throughput sequencing

ctDNA
cell-free tumor DNA

0303 health sciences
SALP-seq
Single strand Adaptor Library Preparation-sequencing

SNP
single nucleotide polymorphism

mRNA
messenger RNA

Computer Science Applications
Cancer treatment
NIPT
noninvasive prenatal testing

Cell-free fetal DNA
030220 oncology & carcinogenesis
SALP-seq
Biotechnology
Research Article
lcsh:Biotechnology
Biophysics
Machine learning
Tv
transversion

DNA sequencing
03 medical and health sciences
lcsh:TP248.13-248.65
Next generation sequencing
Genetics
medicine
Epigenetics
Liquid biopsy
AUC
Area Under Curve

030304 developmental biology
ComputingMethodologies_COMPUTERGRAPHICS
PCA
principal component analysis

business.industry
SNV
single nucleotide variant

Cancer
cfDNA
cell-free DNA

NGS
next generation sequencing

medicine.disease
Genetic marker
ESCA
esophageal cancer

TSS
transcription start site

TCGA
The Cancer Genome Atlas

Artificial intelligence
business
computer
Ti
transitions

Biomarkers
Zdroj: Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 1891-1903 (2020)
ISSN: 2001-0370
Popis: Graphical abstract
The effective non-invasive diagnosis and prognosis are critical for cancer treatment. The plasma cell-free DNA (cfDNA) provides a good material for cancer liquid biopsy and its worth in this field is increasingly explored. Here we describe a new pipeline for effectively finding new cfDNA-based biomarkers for cancers by combining SALP-seq and machine learning. Using the pipeline, 30 cfDNA samples from 26 esophageal cancer (ESCA) patients and 4 healthy people were analyzed as an example. As a result, 103 epigenetic markers (including 54 genome-wide and 49 promoter markers) and 37 genetic markers were identified for this cancer. These markers provide new biomarkers for ESCA diagnosis, prognosis and therapy. Importantly, these markers, especially epigenetic markers, not only shed important new insights on the regulatory mechanisms of this cancer, but also could be used to classify the cfDNA samples. We therefore developed a new pipeline for effectively finding new cfDNA-based biomarkers for cancers by combining SALP-seq and machine learning. In this study, we also discovered new clinical worth of cfDNA distinct from other reported characters.
Databáze: OpenAIRE