Chromosome structural variants: Epidemiology, identification and contribution to human diseases

Detalhes bibliográficos
Autor(a) principal: Dong, Zirui
Data de Publicação: 2022
Outros Autores: David, Dezso, Gonzaga-Jauregui, Claudia, Morton, Cynthia C., Zepeda-Mendoza, Cinthya J.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/8540
Resumo: Editorial on the Research Topic: Chromosome structural variants: Epidemiology, identification and contribution to human diseases.
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spelling Chromosome structural variants: Epidemiology, identification and contribution to human diseasesSV MechanismsSV SpectrumAnnotation and PredictionGenomic RearrangementsGenomic VariationMethodologies & ToolsSequence ComplexityStructural VariantDoenças GenéticasDoenças GenómicasEditorial on the Research Topic: Chromosome structural variants: Epidemiology, identification and contribution to human diseases.Human chromosome structural variants (SVs) are balanced/unbalanced genomic abnormalities that include translocation, inversion, insertion, and deletion/duplication (also known as copy-number variants, CNVs) events with a size of >50 bp. Currently, the capability of genome sequencing in the research and clinical fields has increased our capacity to detect cryptic SVs and further delineate the complexity of karyotypically/microarray detectable SVs. This has increased our knowledge of pathogenicity mechanisms by considering dysregulation of gene expression through position effects and complex interactions between gene dosage and mutational burden. However, much of the contribution of SVs to human disease is left to explore, as the incidence of SVs is still underestimated owing to limitations of current sequencing technologies and analytical pipelines, and few studies have comprehensively integrated SV information with single nucleotide variants in congenital diseases. Rigorous investigation of SV pathogenicity is warranted for clinical applications. The Research Topic in this issue is divided into three main sections: three articles demonstrate methodologies in SV identification and pathogenicity annotation; five papers discuss the spectrum of SVs in individuals with different indications; and two reports characterize sequence complexity of SVs [...].CCM acknowledges NIH P01 GM061354 and support by the NIHR Manchester Biomedical Research CentreFrontiers MediaRepositório Científico do Instituto Nacional de SaúdeDong, ZiruiDavid, DezsoGonzaga-Jauregui, ClaudiaMorton, Cynthia C.Zepeda-Mendoza, Cinthya J.2023-02-28T14:53:00Z2022-09-092022-09-09T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/8540engFront Genet. 2022 Sep 9;13:1022918. doi: 10.3389/fgene.2022.1022918. eCollection 2022. Editorial1664-802110.3389/fgene.2022.1022918info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:42:37Zoai:repositorio.insa.pt:10400.18/8540Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:43:10.811798Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Chromosome structural variants: Epidemiology, identification and contribution to human diseases
title Chromosome structural variants: Epidemiology, identification and contribution to human diseases
spellingShingle Chromosome structural variants: Epidemiology, identification and contribution to human diseases
Dong, Zirui
SV Mechanisms
SV Spectrum
Annotation and Prediction
Genomic Rearrangements
Genomic Variation
Methodologies & Tools
Sequence Complexity
Structural Variant
Doenças Genéticas
Doenças Genómicas
title_short Chromosome structural variants: Epidemiology, identification and contribution to human diseases
title_full Chromosome structural variants: Epidemiology, identification and contribution to human diseases
title_fullStr Chromosome structural variants: Epidemiology, identification and contribution to human diseases
title_full_unstemmed Chromosome structural variants: Epidemiology, identification and contribution to human diseases
title_sort Chromosome structural variants: Epidemiology, identification and contribution to human diseases
author Dong, Zirui
author_facet Dong, Zirui
David, Dezso
Gonzaga-Jauregui, Claudia
Morton, Cynthia C.
Zepeda-Mendoza, Cinthya J.
author_role author
author2 David, Dezso
Gonzaga-Jauregui, Claudia
Morton, Cynthia C.
Zepeda-Mendoza, Cinthya J.
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Dong, Zirui
David, Dezso
Gonzaga-Jauregui, Claudia
Morton, Cynthia C.
Zepeda-Mendoza, Cinthya J.
dc.subject.por.fl_str_mv SV Mechanisms
SV Spectrum
Annotation and Prediction
Genomic Rearrangements
Genomic Variation
Methodologies & Tools
Sequence Complexity
Structural Variant
Doenças Genéticas
Doenças Genómicas
topic SV Mechanisms
SV Spectrum
Annotation and Prediction
Genomic Rearrangements
Genomic Variation
Methodologies & Tools
Sequence Complexity
Structural Variant
Doenças Genéticas
Doenças Genómicas
description Editorial on the Research Topic: Chromosome structural variants: Epidemiology, identification and contribution to human diseases.
publishDate 2022
dc.date.none.fl_str_mv 2022-09-09
2022-09-09T00:00:00Z
2023-02-28T14:53:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/8540
url http://hdl.handle.net/10400.18/8540
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Front Genet. 2022 Sep 9;13:1022918. doi: 10.3389/fgene.2022.1022918. eCollection 2022. Editorial
1664-8021
10.3389/fgene.2022.1022918
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Frontiers Media
publisher.none.fl_str_mv Frontiers Media
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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