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Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those loca...

Carolyn Horton, Ashley Cass, Blair R. Conner, Lily Hoang… in npj Genomic Medicine (2022)