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Journal article

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

Abstract:

BACKGROUND:International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate over test sensitivity and diagnostic yield. Genetic testing is also more likely informative in individuals with well-characterised variants from extensively studied European-ancestry populations. Inherited cardiomyopathies are relatively common Mendelian diseases that allow empirical calibration and a...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

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Publisher copy:
10.1186/s13073-019-0616-z

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Medical Research Council More from this funder
Publisher:
BioMed Central Publisher's website
Journal:
Genome Medicine Journal website
Volume:
11
Pages:
Article: 5
Publication date:
2019-01-29
Acceptance date:
2019-01-14
DOI:
ISSN:
1756-994X
Pubs id:
pubs:969377
URN:
uri:e9a39da9-48c6-4a5d-aa3e-8078b52935e9
UUID:
uuid:e9a39da9-48c6-4a5d-aa3e-8078b52935e9
Local pid:
pubs:969377

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