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Computational Prediction of Position Effects of Human Chromosome Rearrangements.

Current protocols in human genetics - 1 Apr 2018

Zepeda-Mendoza Cinthya J, Menon Shreya, Morton Cynthia C

Abstract excerpt

Balanced and apparently balanced chromosome abnormalities (BCAs) have long been known to generate disease through position effects, either by altering local networks of gene regulation or positioning genes in architecturally different chromosome domains. Despite these observations, identification of distally affected genes by BCAs is oftentimes neglected, especially when predicted gene disruptions are found...

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Identifiers

PMID: 30038699
DOI: 10.1002/cphg.57
PMCID: PMC6054318

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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