Estimated prevalence of potentially damaging variants in the leptin gene

ConclusionUsing exome sequencing data from ExAC, in silico prediction tools and by applying a knowledge-driven approach, we identified 27 probably damaging variants in the leptin gene of 58 heterozygous subjects. With this information, we estimate the prevalence for heterozygosity at 1:1050 corresponding to an incidence of homozygosity of 1:4,400,000 in this large pluriethnic cohort.
Source: Molecular and Cellular Pediatrics - Category: Cytology Source Type: research