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

HIGHLIGHTS

• who: Carolyn Horton from the Ambry GeneticsOne Enterprise, Aliso Viejo, CA, USA Roswell Park Comprehensive Cancer Center, Elm St, Buffalo, NY, USA. Indiana University have published the research: Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer, in the Journal: (JOURNAL)
• what: The authors demonstrate in a large clinical diagnostic cohort of 43,524 individuals that paired DNA- and RNA-seq detects pathogenic variants that impact splicing, including deep-intronic alterations, resulting in the identification of additional 87 individuals with a clinically actionable result.

SUMMARY

 



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