Author

Mikyung Jang

Guy's and St Thomas' NHS Foundation TrustORCID 0009-0001-1288-0004Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:GWAS summary statistics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

James S. WareiD· 2 shared Nicola WhiffiniD· 2 shared Pantazis I. TheotokisiD· 2 shared Paul J.R. BartoniD· 2 shared Roddy WalshiD· 2 shared Xiaolei ZhangiD· 2 shared Alaine BerryiD· 1 shared Antonio de MarvaoiD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersBioinformatics

James S. WareORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintAug 7, 2023

Variant annotation across homologous proteins (Paralogue Annotation) identifies disease-causing missense variants with high precision, and is widely applicable across protein families

Nicholas Li, Xiaolei Zhang, Erica Mazaika…·James S. Ware

This paper introduces Paralogue Annotation, a method using homologous protein variants to predict disease-causing missense variants with high precision.

3 citations

humanGWAS summary statistics

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Genetic & Genomic MedicineJournal of the American College of CardiologyPeer-reviewedSep 1, 2021

Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participants

Antonio de Marvao, Kathryn A. McGurk, Sean Lee Zheng…·Declan P. O’Regan

This study examines the clinical impact of rare variants in HCM-associated genes in the UK Biobank, finding that pathogenic variants are linked to increased cardiovascular risk and subclinical phenotypes, while non-pathogenic variants show minimal effect.

125 citationstop 1%

humanwhole-exome sequencing

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