Croatian Medical Journal • Vol 65 • No 3
Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping
June 2024 • M Kellis, L J Ko, Jiyae Lee, K. Eaton, Cassandra Calloway, Ashutosh Lal, Reena Das, Manu Jamwal, Christian López-Peña, Steven J. Mack
The combined use of ISS and HBB haplotypes enabled us to correctly predict fetal genotypes in cases where the prediction based on variant read ratios alone was incorrect.