Genetic Evolution of Melanoma Published

📢 A new study has just been published in the International Journal of Molecular Sciences:
«Genetic Evolution of Melanoma: Comparative Analysis of Candidate Gene Mutations in Healthy Skin, Nevi, and Tumors from the Same Patients»
🔗 https://doi.org/10.3390/ijms27010532

This publication has a very special meaning to me, as it stems from one of the first research projects I was involved in during my Master’s in Bioinformatics (2019–2020). At that time, I joined the Genética del Melanoma group at Universitat Jaume I de Castelló, led by Conrado Martínez-Cadenas, where I began working in the field of cancer genomics.

My contribution focused on somatic variant calling from healthy skin tissue using standard pipelines (GATK HaplotypeCaller, Mutect2), in the context of studying clonal expansion and early mutational events. The project—now completed as part of Marta Gil-Barrachina’s PhD—used matched healthy skin, nevi, and melanoma samples from the same patients to explore patterns of clonal progression.

It’s rewarding to see this work completed and published after several years. The study provides insights into stepwise somatic evolution in melanomagenesis and highlights the value of combining molecular and histopathological data.

#Melanoma #Genomics #VariantCalling #Bioinformatics #CancerEvolution #GATK #SystemsBiology #Publication