Author

Nicholas Li

Royal Brompton & Harefield NHS Foundation TrustORCID 0009-0008-4269-7682Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Nicholas Li1 paper · University of California, Davis

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 3 Research Focus:benchmarking· 2 Assay:whole-exome sequencing· 2 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

James S. WareiD· 3 shared Nicola WhiffiniD· 3 shared Xiaolei ZhangiD· 3 shared Alexandre C. PereiraiD· 2 shared Alicja Wilk· 2 shared Antonio de MarvaoiD· 2 shared Carolyn Yung HoiD· 2 shared Daniel Louis JacobyiD· 2 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

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

Genetic & Genomic MedicinemedRxivPreprintFeb 16, 2022

Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery

Xiaolei Zhang, Pantazis I. Theotokis, Nicholas Li…·James S. Ware

This paper introduces HMC, a high-resolution genetic constraint score for missense variants, improving variant prioritization and gene discovery for developmental disorders.

8 citations

humanGWAS summary statistics

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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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