HIGHLIGHTS
- who: Jesper Eisfeldt and colleagues from the Editor: BSpinner, University of have published the Article: Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements, in the Journal: (JOURNAL)
- what: The authors compare the performance sensitivity and resolution of four different WGS techniques for solving these CCRs in a clinical diagnostic laboratory set. The authors have characterized three unique CCRs combining multiple technologies including standard cytogenetic techniques (aCGH and FISH), followed by short- and longread approaches in addition to Bionano optical mapping. The t(2;8;15) complex rearrangement was first indicated by regular . . .
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