Brunelli, 2025 - Google Patents

Expanding the Landscape of Breast Cancer-Associated Rare Variants and Combining with Polygenic Risk Score

Brunelli, 2025

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3525187044537791968
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Brunelli G
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Investigating the association at variant-level of rare variants (RVs, MAF< 0.01) with breast cancer (BC) risk in population studies poses challenges due to low statistical power and multiple testing burdens. To increase power, current approaches often aggregate RVs into …
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    • G06F19/18—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
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    • G06F19/22—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
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