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Read Count Patterns and Detection of Cancerous Copy Number Alterations in Plasma Cell-Free DNA Whole Exome Sequencing Data for Advanced Non-Small Cell Lung Canceropen access

Authors
Jang, HoChoi, Chang-MinLee, Seung-HyeunLee, SungyongJeong, Mi-Kyung
Issue Date
Nov-2022
Publisher
MDPI
Keywords
plasma cell-free DNA; whole exome sequencing; copy number alteration detection; non-small cell lung cancer
Citation
International Journal of Molecular Sciences, v.23, no.21
Indexed
SCIE
SCOPUS
Journal Title
International Journal of Molecular Sciences
Volume
23
Number
21
URI
https://scholarworks.korea.ac.kr/kumedicine/handle/2021.sw.kumedicine/61881
DOI
10.3390/ijms232112932
ISSN
1661-6596
1422-0067
Abstract
Plasma cell-free DNA (cfDNA) sequencing data have been widely studied for early diagnosis and treatment response or recurrence monitoring of cancers because of the non-invasive benefits. In cancer studies, whole exome sequencing (WES) is mostly used for discovering single nucleotide variants (SNVs), but it also has the potential to detect copy number alterations (CNAs) that are mostly discovered by whole genome sequencing or microarray. In clinical settings where the quantity of the acquired blood from the patients is limited and where various sequencing experiments are not possible, providing various types of mutation information such as CNAs and SNVs using only WES will be helpful in the treatment decision. Here, we questioned whether the plasma cfDNA WES data for patients with advanced non-small cell lung cancer (NSCLC) could be exploited for CNA detection. When the read count (RC) signals of the WES data were investigated, a similar fluctuation pattern was observed among the signals of different samples, and it can be a major challenge hindering CNA detection. When these RC patterns among cfDNA were suppressed by the method we proposed, the cancerous CNAs were more distinguishable in some samples with higher cfDNA quantity. Although the potential to detect CNAs using the plasma cfDNA WES data for NSCLC patients was studied here, further studies with other cancer types, with more samples, and with more sophisticated techniques for bias correction are required to confirm our observation. In conclusion, the detection performance for cancerous CNAs can be improved by controlling RC bias, but it depends on the quantity of cfDNA in plasma.
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Lee, Sung Yong
Guro Hospital (Department of Pulmonary, Allergy, and Critical Care Medicine, Guro Hospital)
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