Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

doi:10.1016/j.ajhg.2017.06.011

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Article

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

American journal of human genetics - 3 Aug 2017

Zepeda-Mendoza Cinthya J, Ibn-Salem Jonas, Kammin Tammy, Harris David J, Rita Debra, Gripp Karen W, MacKenzie Jennifer J, Gropman Andrea, Graham Brett, Shaheen Ranad, Alkuraya Fowzan S, Brasington Campbell K, Spence Edward J, Masser-Frye Diane, Bird Lynne M, Spiegel Erica, Sparkes Rebecca L, Ordulu Zehra, Talkowski Michael E, Andrade-Navarro Miguel A, Robinson Peter N, Morton Cynthia C

Abstract excerpt

Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and...

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Identifiers

PMID: 28735859
DOI: 10.1016/j.ajhg.2017.06.011
PMCID: PMC5544382

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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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