ClinVar database of global familial hypercholesterolemia-associated DNA variants

Detalhes bibliográficos
Autor(a) principal: Iacocca, Michael A.
Data de Publicação: 2018
Outros Autores: 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
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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spelling 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
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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)
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