Fig. 4: Use of WBC sequencing data to classify variants found in cfDNA. | Nature Communications

Fig. 4: Use of WBC sequencing data to classify variants found in cfDNA.

From: Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS

Fig. 4

a VAF distribution of all mutations called in plasma from cfDNA and WBCs. Colors indicate the origin of mutations. Boxes indicate different populations of mutations: I: Variants only present in cfDNA, II: Variants present in cfDNA at high VAF but also present in WBC at lower VAF, III: Variants present in both cfDNA and WBCs with VAFs in the presumed germline range (35–65%), IV: Variants present in both cfDNA and WBCs with VAFs lower than 10% in both. b Insert size distribution of sequencing reads (fragment size) in healthy donors with characteristic peaks at 161 bp and 317 bp c Fragment size distribution for reads encompassing the variants highlighted by the boxes and labels in (a) for both reference and alternate alleles. Clear differences are observed for reads originating from ctDNA vs normal tissue.

Back to article page