Can Computational Tools Generate Greater Than ACMG Supporting Evidence? A Circularity-Free Analysis Using ATM, CHEK2, and Breast Cancer Case-Control Data
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Presenting Author - Julie L. Boyle, MS; Co-Author - Siqi Hu, MD; Co-Author - Scott Pew, MPH; Co-Author - Colin C. Young, PhD; Co-Author - Bing-Jian Feng, PhD; Co-Author - Colin B. Mackenzie, MD; Co-Author - Mia Hashibe, PhD; Co-Author - Sean V. Tavtigian, PhD;
Meta Tag
Bioinformatics
Co-Author Siqi Hu, MD
Co-Author Scott Pew, MPH
Co-Author Colin C. Young, PhD
Co-Author Bing-Jian Feng, PhD
Co-Author Colin B. Mackenzie, MD
Co-Author Mia Hashibe, PhD
Co-Author Sean V. Tavtigian, PhD
Presenting Author Julie L. Boyle, MS
Keywords
computational tools
pathogenicity
missense substitutions
ACMG guidelines
odds ratios
meta-predictors
variant classification
geometric averages
case-control data
predictive power

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