Author

Risha Govind

Royal Brompton & Harefield NHS Foundation TrustORCID 0000-0001-9925-7866Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genomics· 2

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

James S. WareiD· 4 shared Nicola WhiffiniD· 4 shared Paul J.R. BartoniD· 4 shared Rachel J. BuchaniD· 4 shared Roddy WalshiD· 4 shared Stuart A. CookiD· 4 shared Alicja Wilk· 3 shared Declan P. O’ReganiD· 3 shared

Activity by Year

2018-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenomics

James S. WareORCID

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4 papers

Recent·Most cited

Genomicsnpj Genomic MedicinePeer-reviewedOct 23, 2020

Genomics of Egyptian Healthy Volunteers: The EHVol Study

Yasmine Aguib, Mona Allouba, Alaa Afify…·Magdi Habib Yacoub

The paper describes the EHVol study, a genomic database of 391 Egyptian healthy volunteers to improve representation in global genomic databases and aid in variant interpretation for North African populations.

10 citations

humanwhole-genome sequencing

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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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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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