Computational Prediction of Position Effects of Human Chromosome Rearrangements.
Curr Protoc Hum Genet
; 97(1): e57, 2018 04.
Article
em En
| MEDLINE
| ID: mdl-30038699
ABSTRACT
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 elsewhere in the genome. In this unit, we provide detailed instructions on how to run a computational pipeline that identifies relevant candidates of non-coding BCA position effects. This methodology facilitates quick identification of genes potentially involved in disease by non-coding BCAs and other types of rearrangements, and expands on the importance of considering the long-range consequences of genomic lesions.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rearranjo Gênico
/
Genoma Humano
/
Cromossomos Humanos
/
Biologia Computacional
/
Predisposição Genética para Doença
/
Transtornos Cromossômicos
/
Efeitos da Posição Cromossômica
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Curr Protoc Hum Genet
Ano de publicação:
2018
Tipo de documento:
Article