Leaderboards/Genetic Associations and Epidemiology

Genetic Associations and Epidemiology

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
Vassily Trubetskoy
Roche (Switzerland)
2
Elliot Sollis
European Bioinformatics Institute
3
Marta Byrska-Bishop
New York Genome Center
4
Joshua Backman
Regeneron (United States)
5
Grímur Hjörleifsson Eldjárn
deCODE Genetics (Iceland)
6
Simone Rubinacci
Broad Institute
7
Longda Jiang
New York Genome Center
8
Ninon Mounier
University of Exeter
9
Amani E. Alharbi
King Abdulaziz University
10
Pierrick Wainschtein
The University of Queensland

Papers

1
Systematic reconstruction of molecular pathway signatures using scalable single-cell perturbation screens
Nature Cell Biology|2025
27 cit.
2
Estimation and mapping of the missing heritability of human phenotypes
Nature|2025
24 cit.
3
The Effect of Genetic Variants of SLC22A2 (rs662301 and rs315978) on the response to Metformin in type 2 Saudi diabetic patients
Gene|2024
1 cit.
4
Publication in World Applied Sciences Journal (2024) [W4403252628]
World Applied Sciences Journal|2024
0 cit.
5
Genetics identifies obesity as a shared risk factor for co-occurring multiple long-term conditions
Communications Medicine|2026
0 cit.

Emerging Leaders

Drafting the new consensus

Researchers

1
Philip Haycock
University of Bristol
2
Adam S. Butterworth
University of Cambridge
3
Daniel J. Benjamin
University of California, Los Angeles
4
Clare Bycroft
Google DeepMind (United Kingdom)
5
Taylor Applebaum
Google DeepMind (United Kingdom)
6
Žiga Avsec
Google DeepMind (United Kingdom)
7
Akvilė Žemgulytė
Google DeepMind (United Kingdom)
8
Joshua Pan
Google DeepMind (United Kingdom)
9
Laura W. Harris
European Bioinformatics Institute
10
Hyejung Won
University of North Carolina at Chapel Hill

Papers

1
Accurate proteome-wide missense variant effect prediction with AlphaMissense
Science|2023
2k cit.
2
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
Nucleic Acids Research|2022
1.7k cit.
3
The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity
Nucleic Acids Research|2024
340 cit.
4
The association between genetically elevated polyunsaturated fatty acids and risk of cancer
EBioMedicine|2023
52 cit.
5
Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants
Cell Genomics|2023
45 cit.
6
Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders
Cell|2025
37 cit.
7
Chromatin architecture in addiction circuitry identifies risk genes and potential biological mechanisms underlying cigarette smoking and alcohol use traits
Molecular Psychiatry|2022
31 cit.
8
Design and quality control of large-scale two-sample Mendelian randomization studies
International Journal of Epidemiology|2023
14 cit.
9
Predictions for AlphaMissense
Zenodo (CERN European Organization for Nuclear Research)|2023
4 cit.
10
Polygenic Prediction of Recurrent Events After Early-Onset Myocardial Infarction
Circulation Genomic and Precision Medicine|2024
3 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
Pak C. Sham
University of Hong Kong
2
Peter M. Visscher
The University of Queensland
3
Kāri Stefánsson
deCODE Genetics (Iceland)
4
Fiona Cunningham
Albert Einstein College of Medicine
5
Stephen Burgess
University of Cambridge
6
Mark J. Daly
Broad Institute
7
Richard Durbin
Wellcome Sanger Institute
8
Jonathan Marchini
University of Oxford
9
George Davey Smith
University of Bristol
10
Mark I. McCarthy
Centre for Human Genetics

Papers

1
Fast and accurate short read alignment with Burrows–Wheeler transform
Bioinformatics|2009
62.8k cit.
2
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
The American Journal of Human Genetics|2007
36.1k cit.
3
Fast and accurate long-read alignment with Burrows–Wheeler transform
Bioinformatics|2010
12.9k cit.
4
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Nature Genetics|2011
12.4k cit.
5
Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression
International Journal of Epidemiology|2015
10.6k cit.
6
The UK Biobank resource with deep phenotyping and genomic data
Nature|2018
9.7k cit.
7
Consistent Estimation in Mendelian Randomization with Some Invalid Instruments Using a Weighted Median Estimator
Genetic Epidemiology|2016
9.6k cit.
8
GCTA: A Tool for Genome-wide Complex Trait Analysis
The American Journal of Human Genetics|2010
9.3k cit.
9
The Ensembl Variant Effect Predictor
Genome biology|2016
8.7k cit.
10
Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data
Genetic Epidemiology|2013
6.4k cit.

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