Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system
Abstract Chromosomal heteromorphisms (CHs) are morphological variations predominantly found in constitutive heterochromatic regions of the genome, primarily composed of tandemly repetitive sequences of satellite DNA. Although not completely devoid of genes, these regions are typically not transcribe...
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Main Authors: | Sílvia Pires, Paula Jorge, Thomas Liehr, Natália Oliva-Teles |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2024-10-01
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Series: | Human Genome Variation |
Online Access: | https://doi.org/10.1038/s41439-024-00295-8 |
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