GeneticsbioRxivPreprint
Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples
Tuomo Mantere, Kornelia Neveling, Céline Pebrel‐Richard…·Laïla El Khattabi
This study evaluates high-resolution optical mapping for detecting chromosomal aberrations in 85 samples, achieving 100% concordance with standard tests for non-centromeric breakpoints.
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