Figure 1.

WGS for identification of personalized structural variations. WGS of CD34⁺ BM aspirate from patient 1 (A) and CD117⁺ BM from patient 2 (B) identified structural aberrations consistent with cytogenetic studies (chromosomal locations displayed on the x-axis). Top: structural changes identified by the structural variant caller. Middle: Total normalized somatic copy-number estimates. Bottom: B-allele frequency at binned regions across the genome. Additional genetic material from chromosome 8 along with allelic imbalance was observed in patient 1, consistent with trisomy 8. Data visualized using Illumina Analysis Software. chr, chromosome; SV, structural variant.