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

2018-07-31

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> 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 population...

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Literature Corpus work
e88986b3-d1bd-5cca-82dd-9d87cc9734ab
DOI
10.1101/381467
Open publication

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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathyDOI 10.1101/381467
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