Author

Colin B. Mackenzie

University of MiamiORCID 0009-0003-5092-683XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:Bayesian inference· 1 Research Focus:benchmarking· 1 Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Bing FengiD· 1 shared Colin C. Young· 1 shared Donglei HuiD· 1 shared Elad ZiviD· 1 shared Elodie GirardiD· 1 shared Fabienne LesueuriD· 1 shared Sean V. TavtigianiD· 1 shared Susan L. NeuhauseniD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Bing FengORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintNov 8, 2019

Evaluation of ACMG Rules for In silico Evidence Strength Using An Independent Computational Tool Absent of Circularities on ATM and CHEK2 Breast Cancer Cases and Controls

Colin C. Young, Bing Feng, Colin B. Mackenzie…·Sean V. Tavtigian

The paper evaluates the ACMG PP3 and BP4 rules using Align-GVGD on ATM and CHEK2 data, finding that severe Align-GVGD grades exceed a moderate pathogenic threshold in a Bayesian framework.

1 citation

humanDNA methylation

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