A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy
About this item
Full title
Author / Creator
Horvat, Claire , Johnson, Renee , Lam, Lien , Munro, Jacob , Mazzarotto, Francesco , Roberts, Angharad M. , Herman, Daniel S. , Parfenov, Michael , Haghighi, Alireza , McDonough, Barbara , DePalma, Steven R. , Keogh, Anne M. , Macdonald, Peter S. , Hayward, Christopher S. , Roberts, Amy , Barton, Paul J.R. , Felkin, Leanne E. , Giannoulatou, Eleni , Cook, Stuart A. , Seidman, J.G. , Seidman, Christine E. and Fatkin, Diane
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
We evaluated strategies for identifying disease-causing variants in genetic testing for dilated cardiomyopathy (DCM).
Cardiomyopathy gene panel testing was performed in 532 DCM patients and 527 healthy control subjects. Rare variants in 41 genes were stratified using variant-level and gene-level characteristics.
A majority of DCM cases and co...
Alternative Titles
Full title
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy
Authors, Artists and Contributors
Author / Creator
Johnson, Renee
Lam, Lien
Munro, Jacob
Mazzarotto, Francesco
Roberts, Angharad M.
Herman, Daniel S.
Parfenov, Michael
Haghighi, Alireza
McDonough, Barbara
DePalma, Steven R.
Keogh, Anne M.
Macdonald, Peter S.
Hayward, Christopher S.
Roberts, Amy
Barton, Paul J.R.
Felkin, Leanne E.
Giannoulatou, Eleni
Cook, Stuart A.
Seidman, J.G.
Seidman, Christine E.
Fatkin, Diane
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7336363
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7336363
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0036-2
