SVlog: a logic programming framework for understanding structural variation in genomic disease

Structural variants (SVs) are a diverse group of genetic variants defined by a minimum size of 50 base pairs. SVs account for the majority of all variant bases in a person's genome and are commonly implicated in inherited disease and cancer. However, SV analysis is complex due to their wide variation in type and size, degree of polymorphism, involvement of repetitive sequences, and the myriad…

biorxiv.org ·1d ago

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