Genomic landscape of metastatic melanoma using cell free DNA. Homo sapiens

The aim of the study was to carry out whole genome sequencing on the cfDNA of a patient diagnosed with metastatic melanoma pre- and post-treatment. To address the low abundance of cfDNA and minimize PCR errors, a low input PCR free library preparation protocol was to be carried out and the data analyzed using a optimized bioinformatics pipeline. Following the identification of somatic variants identified by whole genome sequencing, the goal was to use a targeted amplicon based sequencing approach to verify and track frequencies at distinct time-points over 13 months of treatment.