Author

Alicja Wilk

Royal Brompton & Harefield NHS Foundation Trust

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

James S. WareiD· 3 shared Mian Ahmad· 3 shared Nicola WhiffiniD· 3 shared Paul J.R. BartoniD· 3 shared Rachel J. BuchaniD· 3 shared Risha GovindiD· 3 shared Roddy WalshiD· 3 shared Stuart A. CookiD· 3 shared

Activity by Year

2018-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

James S. WareORCID

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3 papers

Recent·Most cited

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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GenomicsGenetics in MedicinePeer-reviewedJan 25, 2018

CardioClassifier: demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation

Nicola Whiffin, Roddy Walsh, Risha Govind…·Stuart A. Cook

CardioClassifier is a decision-support tool for inherited cardiac conditions that improves variant interpretation by integrating disease-specific annotations and case data.

104 citationstop 2%

humanwhole-exome sequencing

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