GenomicsbioRxivPreprint
Genome mapping resolves structural variation within segmental duplications associated with microdeletion/microduplication syndromes
Yulia Mostovoy, Feyza Yilmaz, Stephen K. Chow…·Tamim H. Shaikh
The paper presents a high-throughput optical mapping technique to genotype structural variation in segmental duplications, identifying novel variants and refining breakpoints in microdeletion syndromes across diverse populations.