ClinVar database of global familial hypercholesterolemia-associated DNA variants
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/5620 |
Resumo: | Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved patient care. An essential requirement for achieving standardized and reliable variant interpretation is data sharing, facilitated by a centralized open-source database. Familial hypercholesterolemia (FH) is an exemplar of the utility of such a resource: it has a high incidence, a favorable prognosis with early intervention and treatment, and cascade screening can be offered to families if a causative variant is identified. ClinVar, an NCBI-funded resource, has become the primary repository for clinically relevant variants in Mendelian disease, including FH. Here, we present the concerted efforts made by the Clinical Genome Resource, through the FH Variant Curation Expert Panel and global FH community, to increase submission of FH-associated variants into ClinVar. Variant-level data was categorized by submitter, variant characteristics, classification method, and available supporting data. To further reform interpretation of FH-associated variants, areas for improvement in variant submissions were identified; these include a need for more detailed submissions and submission of supporting variant-level data, both retrospectively and prospectively. Collaborating to provide thorough, reliable evidence-based variant interpretation will ultimately improve the care of FH patients. |
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ClinVar database of global familial hypercholesterolemia-associated DNA variantsClinVarClinical Genome ResourceFamilial HypercholesterolemiaVariant InterpretationDoenças Cardio e Cérebro-vascularesAccurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved patient care. An essential requirement for achieving standardized and reliable variant interpretation is data sharing, facilitated by a centralized open-source database. Familial hypercholesterolemia (FH) is an exemplar of the utility of such a resource: it has a high incidence, a favorable prognosis with early intervention and treatment, and cascade screening can be offered to families if a causative variant is identified. ClinVar, an NCBI-funded resource, has become the primary repository for clinically relevant variants in Mendelian disease, including FH. Here, we present the concerted efforts made by the Clinical Genome Resource, through the FH Variant Curation Expert Panel and global FH community, to increase submission of FH-associated variants into ClinVar. Variant-level data was categorized by submitter, variant characteristics, classification method, and available supporting data. To further reform interpretation of FH-associated variants, areas for improvement in variant submissions were identified; these include a need for more detailed submissions and submission of supporting variant-level data, both retrospectively and prospectively. Collaborating to provide thorough, reliable evidence-based variant interpretation will ultimately improve the care of FH patients.The ClinGen consortium is funded by the National Human Genome Research Institute of the National Institutes of Health through the following grants and contracts: U41HG006834, U41HG009649, U41HG009650, U01HG007436, and U01HG007437.Wiley/Human Genome Variation SocietyRepositório Científico do Instituto Nacional de SaúdeIacocca, Michael A.Chora, Joana R.Carrié, AlainFreiberger, TomášLeigh, Sarah E.Defesche, Joep C.Kurtz, C. LisaDiStefano, Marina T.Santos, Raul D.Humphries, Steve E.Mata, PedroJannes, Cinthia E.Hooper, Amanda J.Wilemon, Katherine A.Benlian, PascaleO'Connor, RobertGarcia, JohnWand, HannahTichy, LukášSijbrands, Eric J.Hegele, Robert A.Bourbon, MafaldaKnowles, Joshua W.on behalf of the ClinGen FH Variant Curation Expert Panel2018-10-18T10:18:54Z2018-112018-11-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/5620engHum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634.1059-779410.1002/humu.23634info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:59Zoai:repositorio.insa.pt:10400.18/5620Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:40:22.074845Repositório 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 |
ClinVar database of global familial hypercholesterolemia-associated DNA variants |
title |
ClinVar database of global familial hypercholesterolemia-associated DNA variants |
spellingShingle |
ClinVar database of global familial hypercholesterolemia-associated DNA variants Iacocca, Michael A. ClinVar Clinical Genome Resource Familial Hypercholesterolemia Variant Interpretation Doenças Cardio e Cérebro-vasculares |
title_short |
ClinVar database of global familial hypercholesterolemia-associated DNA variants |
title_full |
ClinVar database of global familial hypercholesterolemia-associated DNA variants |
title_fullStr |
ClinVar database of global familial hypercholesterolemia-associated DNA variants |
title_full_unstemmed |
ClinVar database of global familial hypercholesterolemia-associated DNA variants |
title_sort |
ClinVar database of global familial hypercholesterolemia-associated DNA variants |
author |
Iacocca, Michael A. |
author_facet |
Iacocca, Michael A. Chora, Joana R. Carrié, Alain Freiberger, Tomáš Leigh, Sarah E. Defesche, Joep C. Kurtz, C. Lisa DiStefano, Marina T. Santos, Raul D. Humphries, Steve E. Mata, Pedro Jannes, Cinthia E. Hooper, Amanda J. Wilemon, Katherine A. Benlian, Pascale O'Connor, Robert Garcia, John Wand, Hannah Tichy, Lukáš Sijbrands, Eric J. Hegele, Robert A. Bourbon, Mafalda Knowles, Joshua W. on behalf of the ClinGen FH Variant Curation Expert Panel |
author_role |
author |
author2 |
Chora, Joana R. Carrié, Alain Freiberger, Tomáš Leigh, Sarah E. Defesche, Joep C. Kurtz, C. Lisa DiStefano, Marina T. Santos, Raul D. Humphries, Steve E. Mata, Pedro Jannes, Cinthia E. Hooper, Amanda J. Wilemon, Katherine A. Benlian, Pascale O'Connor, Robert Garcia, John Wand, Hannah Tichy, Lukáš Sijbrands, Eric J. Hegele, Robert A. Bourbon, Mafalda Knowles, Joshua W. on behalf of the ClinGen FH Variant Curation Expert Panel |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Iacocca, Michael A. Chora, Joana R. Carrié, Alain Freiberger, Tomáš Leigh, Sarah E. Defesche, Joep C. Kurtz, C. Lisa DiStefano, Marina T. Santos, Raul D. Humphries, Steve E. Mata, Pedro Jannes, Cinthia E. Hooper, Amanda J. Wilemon, Katherine A. Benlian, Pascale O'Connor, Robert Garcia, John Wand, Hannah Tichy, Lukáš Sijbrands, Eric J. Hegele, Robert A. Bourbon, Mafalda Knowles, Joshua W. on behalf of the ClinGen FH Variant Curation Expert Panel |
dc.subject.por.fl_str_mv |
ClinVar Clinical Genome Resource Familial Hypercholesterolemia Variant Interpretation Doenças Cardio e Cérebro-vasculares |
topic |
ClinVar Clinical Genome Resource Familial Hypercholesterolemia Variant Interpretation Doenças Cardio e Cérebro-vasculares |
description |
Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved patient care. An essential requirement for achieving standardized and reliable variant interpretation is data sharing, facilitated by a centralized open-source database. Familial hypercholesterolemia (FH) is an exemplar of the utility of such a resource: it has a high incidence, a favorable prognosis with early intervention and treatment, and cascade screening can be offered to families if a causative variant is identified. ClinVar, an NCBI-funded resource, has become the primary repository for clinically relevant variants in Mendelian disease, including FH. Here, we present the concerted efforts made by the Clinical Genome Resource, through the FH Variant Curation Expert Panel and global FH community, to increase submission of FH-associated variants into ClinVar. Variant-level data was categorized by submitter, variant characteristics, classification method, and available supporting data. To further reform interpretation of FH-associated variants, areas for improvement in variant submissions were identified; these include a need for more detailed submissions and submission of supporting variant-level data, both retrospectively and prospectively. Collaborating to provide thorough, reliable evidence-based variant interpretation will ultimately improve the care of FH patients. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-10-18T10:18:54Z 2018-11 2018-11-01T00:00:00Z |
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/10400.18/5620 |
url |
http://hdl.handle.net/10400.18/5620 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634. 1059-7794 10.1002/humu.23634 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/embargoedAccess |
eu_rights_str_mv |
embargoedAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Wiley/Human Genome Variation Society |
publisher.none.fl_str_mv |
Wiley/Human Genome Variation Society |
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 |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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