A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

Abstract

There is a complex relationship between the evolution of segmental duplications and rearrangements associated with human disease. We performed a detailed analysis of one region on chromosome 16p12.1 associated with neurocognitive disease and identified one of the largest structural inconsistencies in the human reference assembly. Various genomic analyses… (More)
DOI: 10.1038/ng.643

Topics

5 Figures and Tables