GENETICS IN MEDICINE, vol.18, no.6, pp.600-607, 2016 (SCI-Expanded)
Article / Article
GENETICS IN MEDICINE
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Hacettepe University Affiliated:
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.