Publications by authors named "Riccardo Scandino"
Article Synopsis
- Cancer involves a complex interaction between germline genetic variants and somatic mutations, with many somatic changes linked to key pathways that drive specific cancer types.
- A study using over 8,500 samples identified 276 significant SNPs through genome-wide association studies (GWAS), with 94 showing connections to cancer-related genes.
- The resulting polygenic scores for various cancer traits were effective in predicting clinical outcomes and stratifying patients by cancer subtypes, highlighting the role of germline genetics in cancer risk and patient profiles.
Summary: Whole-exome and targeted sequencing are widely utilized both in translational cancer genomics and in the setting of precision medicine. The benchmarking of computational methods and tools that are in continuous development is fundamental for the correct interpretation of somatic genomic profiling results. To this aim we developed synggen, a tool for the fast generation of large-scale realistic and heterogeneous cancer whole-exome and targeted sequencing synthetic datasets, which enables the incorporation of phased germline single nucleotide polymorphisms and complex allele-specific somatic genomic events.
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