TAD fusion score: discovery and ranking the contribution of deletions to genome structure.
Genome Biol
; 20(1): 60, 2019 03 21.
Article
em En
| MEDLINE
| ID: mdl-30898144
ABSTRACT
Deletions that fuse two adjacent topologically associating domains (TADs) can cause severe developmental disorders. We provide a formal method to quantify deletions based on their potential disruption of the three-dimensional genome structure, denoted as the TAD fusion score. Furthermore, we show that deletions that cause TAD fusion are rare and under negative selection in the general population. Finally, we show that our method correctly gives higher scores to deletions reported to cause various disorders, including developmental disorders and cancer, in comparison to the deletions reported in the 1000 Genomes Project. The TAD fusion score tool is publicly available at https//github.com/HormozdiariLab/TAD-fusion-score .
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromatina
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Proteínas de Fusão Oncogênica
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Deficiências do Desenvolvimento
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Regulação da Expressão Gênica
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Deleção de Sequência
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Biologia Computacional
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Neoplasias
Limite:
Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article