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@article{1484517,
author = {Iacocca, M.A. and Chora, J.R. and Carrie, A. and Freiberger, Tomáš and Leigh, S.E. and Defesche, J.C. and Kurtz, C.L. and DiStefano, M.T. and Santos, R.D. and Humphries, S.E. and Mata, P. and Jannes, C.E. and Hooper, A.J. and Wilemon, K.A. and Benlian, P. and O Connor, R. and Garcia, J. and Wand, H. and Tichý, Lukáš and Sijbrands, E.J. and Hegele, R.A. and Bourbon, M. and Knowles, J.W.},
article_location = {New York},
article_number = {11},
doi = {http://dx.doi.org/10.1002/humu.23634},
keywords = {Clinical Genome Resource; ClinVar; familial hypercholesterolemia; variant interpretation},
language = {eng},
issn = {1059-7794},
journal = {Human Mutation},
title = {ClinVar database of global familial hypercholesterolemia-associated DNA variants},
volume = {39},
year = {2018}
}
TY - JOUR
ID - 1484517
AU - Iacocca, M.A. - Chora, J.R. - Carrie, A. - Freiberger, Tomáš - Leigh, S.E. - Defesche, J.C. - Kurtz, C.L. - DiStefano, M.T. - Santos, R.D. - Humphries, S.E. - Mata, P. - Jannes, C.E. - Hooper, A.J. - Wilemon, K.A. - Benlian, P. - O Connor, R. - Garcia, J. - Wand, H. - Tichý, Lukáš - Sijbrands, E.J. - Hegele, R.A. - Bourbon, M. - Knowles, J.W.
PY - 2018
TI - ClinVar database of global familial hypercholesterolemia-associated DNA variants
JF - Human Mutation
VL - 39
IS - 11
SP - 1631-1640
EP - 1631-1640
PB - Wiley-Liss
SN - 10597794
KW - Clinical Genome Resource
KW - ClinVar
KW - familial hypercholesterolemia
KW - variant interpretation
N2 - 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.
ER -
IACOCCA, M.A., J.R. CHORA, A. CARRIE, Tomáš FREIBERGER, S.E. LEIGH, J.C. DEFESCHE, C.L. KURTZ, M.T. DISTEFANO, R.D. SANTOS, S.E. HUMPHRIES, P. MATA, C.E. JANNES, A.J. HOOPER, K.A. WILEMON, P. BENLIAN, R. O CONNOR, J. GARCIA, H. WAND, Lukáš TICHÝ, E.J. SIJBRANDS, R.A. HEGELE, M. BOURBON and J.W. KNOWLES. ClinVar database of global familial hypercholesterolemia-associated DNA variants. \textit{Human Mutation}. New York: Wiley-Liss, 2018, vol.~39, No~11, p.~1631-1640. ISSN~1059-7794. Available from: https://dx.doi.org/10.1002/humu.23634.
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