Reposted by Mitch Bekritsky
Illumina constellation technology gets a preprint after ASHG. Detecting complex genomic variants in samples that could not be assessed with traditional long reads. #Sedlazeck
www.medrxiv.org/content/10.1...
medrxiv.org
Constellation illuminates rare disease genetics
Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long r...
