Cell-free DNA as a potential alternative to genomic DNA in genetic studies.

ABSTRACT: Next-generation sequencing has greatly advanced genomics, enabling large-scale studies of population genetics and complex traits. Genomic DNA (gDNA) from white blood cells has traditionally been the main data source, but cell-free DNA (cfDNA), found in bodily fluids as fragmented DNA, is increasingly recognized as a valuable biomarker in clinical and genetic studies. However, a direct comparison between cfDNA and gDNA has not been fully explored. In this study, we analyzed cfDNA and gDNA from 186 healthy individuals, using the same sequencing platform. We compared sequencing quality, variant detection, allele frequencies (AF), genotype concordance, population structure, and genomic association results (genome-wide association study and expression quantitative trait locus). While cfDNA show

SUBMITTER: Zeng J 

PROVIDER: S-EPMC12408905 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature