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ClinVar database of global familial hypercholesterolemia-associated DNA variants

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F18%3A00070313" target="_blank" >RIV/65269705:_____/18:00070313 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216224:14110/18:00105335 RIV/00209775:_____/18:N0000007

  • Result on the web

    <a href="https://www.researchgate.net/publication/328237724_ClinVar_database_of_global_familial_hypercholesterolemia-associated_DNA_variants" target="_blank" >https://www.researchgate.net/publication/328237724_ClinVar_database_of_global_familial_hypercholesterolemia-associated_DNA_variants</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1002/humu.23634" target="_blank" >10.1002/humu.23634</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    ClinVar database of global familial hypercholesterolemia-associated DNA variants

  • Original language 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.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10603 - Genetics and heredity (medical genetics to be 3)

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Others

  • Publication year

    2018

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Human Mutation

  • ISSN

    1059-7794

  • e-ISSN

  • Volume of the periodical

    39

  • Issue of the periodical within the volume

    11

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    10

  • Pages from-to

    1631-1640

  • UT code for WoS article

    000447138900016

  • EID of the result in the Scopus database

    2-s2.0-85054632930