Pathogenicity reclassification of two BRCA1/BRCA2 exonic duplications after identification of genomic breakpoints and tandem orientation.
Sign Up to like & getrecommendations! Published in 2020 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2020.09.001
Abstract: The genomic consequence and clinical interpretation of large duplications are difficult to infer without determining the location and orientation of the duplicated sequence. We aimed to characterize two intragenic duplications detected in two hereditary breast… read more here.
Keywords: genomic breakpoints; orientation; reclassification two; brca2 ... See more keywords