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Recent research resolves 135 chromosome 22q11.2 haplotypes, revealing structural variation that influences susceptibility to 22q11.2 deletion syndrome and helping to explain reduced prevalence among individuals of African ancestry. www.nature.com/articles/s41...
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www.nature.com
The authors resolve 63 structurally diverse haplotype structures for the 22q11.2 deletion syndrome region. Deletion risk differs depending on structure; individuals of African ancestry are enriched fo...
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion - Nature Communications
Human Pangenome Reference Consortium