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Molecular Genetics & Genomic Medicine|January 25, 2017
hg19K: addressing a significant lacuna in hg19-based variant callingSavita Karthikeyan, Pushpinder S Bawa, Subhashini Srinivasan
Bioinformatics (Oxford, England)|July 12, 2025
Tsbrowse: an interactive browser for ancestral recombination graphsSavita Karthikeyan, Ben Jeffery, Duncan Mbuli-Robertson, et al.
Biorxiv : the Preprint Server for Biology|February 6, 2026
Tracing the evolutionary histories of ultra-rare variants using variational dating of large ancestral recombination graphsNathaniel S Pope, Sam Tallman, Ben Jeffery, et al.
Nature Genetics|May 18, 2021
An atlas of mitochondrial DNA genotype-phenotype associations in the UK BiobankEkaterina Yonova-Doing, Claudia Calabrese, Aurora Gomez-Duran, et al.
International Journal of Cardiology|May 29, 2018
Genetic predictors of testosterone and their associations with cardiovascular disease and risk factors: A Mendelian randomization investigationC Mary Schooling, Shan Luo, Shiu Lun Au Yeung, et al.
Scientific Data|January 31, 2023
Quality control and removal of technical variation of NMR metabolic biomarker data in ~120,000 UK Biobank participantsScott C Ritchie, Praveen Surendran, Savita Karthikeyan, et al.
Plos Genetics|March 10, 2020
The influence of rare variants in circulating metabolic biomarkersFernando Riveros-Mckay, Clare Oliver-Williams, Savita Karthikeyan, et al.
European Heart Journal|December 15, 2025
Combined clinical, metabolomic, and polygenic scores for cardiovascular risk predictionScott C Ritchie, Xilin Jiang, Lisa Pennells, et al.
Nature Communications|October 17, 2022
Systematic Mendelian randomization using the human plasma proteome to discover potential therapeutic targets for strokeLingyan Chen, James E Peters, Bram Prins, et al.
Nature Communications|March 7, 2019
Assessing the causal association of glycine with risk of cardio-metabolic diseasesLaura B L Wittemans, Luca A Lotta, Clare Oliver-Williams, et al.
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