GENETICS IN MEDICINE, cilt.18, sa.6, ss.600-607, 2016 (SCI-Expanded)
Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation sequencing created possibilities to combine whole-exome sequencing (WES) and homozygosity Mapping in a single step.