Andrea Bianchi, Veronica Zelli, Andrea D'Angelo, Alessandro Di Matteo, Giulia Scoccia, Katia Cannita, Antigone S Dimas, Stavros Glentis, Francesca Zazzeroni, Edoardo Alesse, Antinisca Di Marco, Alessandra Tessitore
In the rapidly evolving field of genomics, understanding the genetic basis of complex diseases like breast cancer, particularly its familial/hereditary forms, is crucial. Current methods often examine genomic variants-such as Single Nucleotide Variants (SNVs), insertions/deletions (Indels), and Copy Number Variations (CNVs)-separately, lacking an integrated approach. Here, we introduced a robust, flexible methodology for a comprehensive variants' analysis using Whole Exome Sequencing (WES) data. Our approach uniquely combines meticulous validation with an effective variant filtering strategy...
June 2024: NAR genomics and bioinformatics