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Article

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

Nature genetics - 1 Sept 2010

Antonacci Francesca, Kidd Jeffrey M, Marques-Bonet Tomas, Teague Brian, Ventura Mario, Girirajan Santhosh, Alkan Can, Campbell Catarina D, Vives Laura, Malig Maika, Rosenfeld Jill A, Ballif Blake C, Shaffer Lisa G, Graves Tina A, Wilson Richard K, Schwartz David C, Eichler Evan E

Abstract excerpt

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 show that all examined humans are homozygously inverted...

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Identifiers

PMID: 20729854
DOI: 10.1038/ng.643
PMCID: PMC2930074

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