Fig S1 from Dynamics of Sequence and Structural Cell-Free DNA Landscapes in Small-Cell Lung Cancer
Year: 2023
Type: other
Abstract: Schematic summarizing the branched logic used to determine the origin of sequence alterations identified in plasma NGS. Variants representing lung cancer hotspots were classified as tumor-derived, independent of their presence in matched WBC DNA NGS. Variants with a variant allele fraction (VAF) >25% in all WBC DNA and plasma samples from a patient were classified as germline. Alterations that were detected in matched WBC DNA sequencing or in the canonical clonal hematopoiesis (CH) gene DNMT3A were classified as CH-derived. For all variants detected in plasma using TEC-Seq but not in matched WBC DNA samples (based on a threshold of >3 supermutants), we performed an additional evaluation of their supermutant counts in the WBC DNA sequence data to exclude potential CH origin. Plasma variants with a supermutant count of >1 in matched WBC DNA TEC-Seq data were classified as CH-derived and alterations with a matched WBC DNA supermutant count of 0 were assigned a tumor-derived origin.
Language: English
Subfield: Cancer Research
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4366252118