Article
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.
Genome research - 1 Nov 2016
Mohajeri Kiana, Cantsilieris Stuart, Huddleston John, Nelson Bradley J, Coe Bradley P, Campbell Catarina D, Baker Carl, Harshman Lana, Munson Katherine M, Kronenberg Zev N, Kremitzki Milinn, Raja Archana, Catacchio Claudia Rita, Graves Tina A, Wilson Richard K, Ventura Mario, Eichler Evan E
Abstract excerpt
Recurrent rearrangements of Chromosome 8p23.1 are associated with congenital heart defects and developmental delay. The complexity of this region has led to inconsistencies in the current reference assembly, confounding studies of genetic variation. Using comparative sequence-based approaches, we generated a high-quality 6.3-Mbp alternate reference assembly of an inverted Chromosome 8p23.1 haplotype. Comparison...
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