Figure 1
Figure 1. Approach to detect chromosomal rearrangements from mate-pair genomic DNA sequencing data. (Top) schematic of bioinformatic algorithm. False-positive calls were minimized using filters based on quality of mapping, quality of nearby sequence in the reference genome, and a mask developed from noncancerous samples (see “Mate-pair data mapping and bioinformatic analysis”). Candidate abnormalities were supported by at least 4 mate pairs with reads mapping > 15 kb apart. Events were classified as recurrent abnormalities when they shared breakpoints within 1 Mb in 2 or more cases. (Bottom) numbers of read pairs or rearrangement events after executing each step of the algorithm, shown for individual cases and as the sum of all cases.

Approach to detect chromosomal rearrangements from mate-pair genomic DNA sequencing data. (Top) schematic of bioinformatic algorithm. False-positive calls were minimized using filters based on quality of mapping, quality of nearby sequence in the reference genome, and a mask developed from noncancerous samples (see “Mate-pair data mapping and bioinformatic analysis”). Candidate abnormalities were supported by at least 4 mate pairs with reads mapping > 15 kb apart. Events were classified as recurrent abnormalities when they shared breakpoints within 1 Mb in 2 or more cases. (Bottom) numbers of read pairs or rearrangement events after executing each step of the algorithm, shown for individual cases and as the sum of all cases.

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