A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation.
Publication
, Journal Article
Connell, PS; Jeewa, A; Kearney, DL; Tunuguntla, H; Denfield, SW; Allen, HD; Landstrom, AP
Published in: Clin Case Rep
January 2019
Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the gene are pathologic, consistency of prediction software on pathogenicity, and the current clinical consensus.
Duke Scholars
Published In
Clin Case Rep
DOI
ISSN
2050-0904
Publication Date
January 2019
Volume
7
Issue
1
Start / End Page
211 / 217
Location
England
Related Subject Headings
- 42 Health sciences
- 32 Biomedical and clinical sciences
- 30 Agricultural, veterinary and food sciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Connell, P. S., Jeewa, A., Kearney, D. L., Tunuguntla, H., Denfield, S. W., Allen, H. D., & Landstrom, A. P. (2019). A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation. Clin Case Rep, 7(1), 211–217. https://doi.org/10.1002/ccr3.1920
Connell, Patrick S., Aamir Jeewa, Debra L. Kearney, Hari Tunuguntla, Susan W. Denfield, Hugh D. Allen, and Andrew P. Landstrom. “A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation.” Clin Case Rep 7, no. 1 (January 2019): 211–17. https://doi.org/10.1002/ccr3.1920.
Connell PS, Jeewa A, Kearney DL, Tunuguntla H, Denfield SW, Allen HD, et al. A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation. Clin Case Rep. 2019 Jan;7(1):211–7.
Connell, Patrick S., et al. “A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation.” Clin Case Rep, vol. 7, no. 1, Jan. 2019, pp. 211–17. Pubmed, doi:10.1002/ccr3.1920.
Connell PS, Jeewa A, Kearney DL, Tunuguntla H, Denfield SW, Allen HD, Landstrom AP. A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation. Clin Case Rep. 2019 Jan;7(1):211–217.
Published In
Clin Case Rep
DOI
ISSN
2050-0904
Publication Date
January 2019
Volume
7
Issue
1
Start / End Page
211 / 217
Location
England
Related Subject Headings
- 42 Health sciences
- 32 Biomedical and clinical sciences
- 30 Agricultural, veterinary and food sciences