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