Constrained variant detection with SPaRC: Sparsity, parental relatedness, and coverage

摘要

Structural variants (SVs) are rearrangements of DNA sequences such as inversions, deletions, insertions and translocations. The common method for detecting SVs has been to sequence data from a test genome and map it to a reference genome. More recently, DNA sequencing studies may consist of hundreds, or even thousands of individuals, some of which may be related. In order to improve our ability to identify SVs, we boost the true SV signals by simultaneously analyzing parent and child genomes. Our algorithmic formulation - SPaRC - employs realistic criteria such as sparsity of SVs, relatedness between individuals and variable sequencing coverage throughout the genome.