Author

Steven D. Colan

Boston Children's HospitalORCID 0000-0002-7941-0947Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 3 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Assay:protein structure· 1 Research Focus:protein structure prediction· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alexandre C. PereiraiD· 3 shared Carolyn Yung HoiD· 3 shared Daniel Louis JacobyiD· 3 shared Euan Angus AshleyiD· 3 shared Francesco MazzarottoiD· 3 shared Iacopo OlivottoiD· 3 shared James S. WareiD· 3 shared Michelle MichelsiD· 3 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Alexandre C. PereiraORCID

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3 papers

Recent·Most cited

GeneticsGenetics in MedicinePeer-reviewedMar 29, 2021

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

Andrea D. Thompson, Adam S. Helms, Anamika Kannan…·SHaRe investigators

The paper uses STRUM to predict subdomain stability in MYBPC3 variants, showing that variants causing misfolding are associated with higher adverse event rates in HCM patients.

16 citations

humanprotein structure

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GeneticsGenetics in MedicinePeer-reviewedOct 12, 2020

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

Xiaolei Zhang, Roddy Walsh, Nicola Whiffin…·James S. Ware

This paper introduces CardioBoost, a disease-specific variant classifier for inherited cardiac conditions, showing improved accuracy in predicting pathogenicity compared to genome-wide tools.

64 citationstop 4%

humanwhole-exome sequencing

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GeneticsGenome MedicinePeer-reviewedJan 29, 2019

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

Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin…·James S. Ware

The paper quantifies variant pathogenicity in hypertrophic cardiomyopathy using etiological fraction, increasing actionable variant detection by 14-20%.

120 citationstop 1%

humanwhole-exome sequencing

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