Leaderboards/Genomics and Rare Diseases

Genomics and Rare Diseases

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
Vassily Trubetskoy
Roche (Switzerland)
2
Gerardo Perez
University of California, Santa Cruz
3
Marta Byrska-Bishop
New York Genome Center
4
Moritz Smolka
Baylor College of Medicine
5
Joshua Backman
Regeneron (United States)
6
Max Schubach
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
7
Justin Wagner
National Institute of Standards and Technology
8
Benjamin Livesey
Institute of Genetics and Cancer
9
Antoni Beltran
Centre for Genomic Regulation
10
Sean J. Jurgens
Amsterdam University Medical Centers

Papers

1
The UCSC Genome Browser database: 2025 update
Nucleic Acids Research|2024
579 cit.
2
Detection of mosaic and population-level structural variants with Sniffles2
Nature Biotechnology|2024
439 cit.
3
Publication in Nucleic Acids Research (2024) [404 citations, W4390616142]
Nucleic Acids Research|2024
404 cit.
4
Rare coding variant analysis for human diseases across biobanks and ancestries
Nature Genetics|2024
56 cit.
5
Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience
Nature Genetics|2024
49 cit.
6
Publication in Genome biology (2025) [30 citations, W4409669254]
Genome biology|2025
30 cit.
7
Publication in Genome biology (2025) [25 citations, W4394946907]
Genome biology|2025
25 cit.
8
Small variant benchmark from a complete assembly of X and Y chromosomes
Nature Communications|2025
7 cit.
9
Rare genetic variants in LDLR, APOB, and PCSK9 are associated with aortic stenosis
European Heart Journal|2024
1 cit.
10
Publication in European Heart Journal (2025) [1 citation, W4414035681]
European Heart Journal|2025
1 cit.

Emerging Leaders

Drafting the new consensus

Researchers

1
Taylor Applebaum
Google DeepMind (United Kingdom)
2
Žiga Avsec
Google DeepMind (United Kingdom)
3
Clare Bycroft
Google DeepMind (United Kingdom)
4
Akvilė Žemgulytė
Google DeepMind (United Kingdom)
5
Joshua Pan
Google DeepMind (United Kingdom)
6
Andreas Massouras
École Polytechnique Fédérale de Lausanne
7
Douglas M. Fowler
University of Washington
8
B Kattman
National Center for Biotechnology Information
9
Christopher D. Whelan
Biogen (United States)
10
Adam S. Butterworth
University of Cambridge

Papers

1
Accurate proteome-wide missense variant effect prediction with AlphaMissense
Science|2023
2k cit.
2
Plasma proteomic associations with genetics and health in the UK Biobank
Nature|2023
1.5k cit.
3
ClinVar: updates to support classifications of both germline and somatic variants
Nucleic Acids Research|2024
126 cit.
4
Will variants of uncertain significance still exist in 2030?
The American Journal of Human Genetics|2023
98 cit.
5
MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays
Genome biology|2025
65 cit.
6
Genome-Wide Association Studies of ARIA From the Aducanumab Phase 3 ENGAGE and EMERGE Studies
Neurology|2023
38 cit.
7
Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes
The American Journal of Human Genetics|2024
34 cit.
8
Genetic map of regional sulcal morphology in the human brain from UK biobank data
Nature Communications|2022
30 cit.
9
A chemically controlled Cas9 switch enables temporal modulation of diverse effectors
Nature Chemical Biology|2023
20 cit.
10
Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoff
Genetics|2024
12 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
Heidi L. Rehm
Unknown
2
Fiona Cunningham
Albert Einstein College of Medicine
3
Richard Durbin
Wellcome Sanger Institute
4
Daniel G. MacArthur
Garvan Institute of Medical Research
5
Evan E. Eichler
University of Washington
6
Mark J. Daly
Broad Institute
7
Jeanette P. Schmidt
Johannes Gutenberg University Mainz
8
Christian Happi
Harvard University
9
Nikolaus Schultz
Memorial Sloan Kettering Cancer Center
10
Jay Shendure
Brotman Baty Institute

Papers

1
Fast and accurate short read alignment with Burrows–Wheeler transform
Bioinformatics|2009
62.8k cit.
2
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Genetics in Medicine|2015
32.2k cit.
3
The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data
Cancer Discovery|2012
18.4k cit.
4
Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal
Science Signaling|2013
15.9k cit.
5
Fast and accurate long-read alignment with Burrows–Wheeler transform
Bioinformatics|2010
12.9k cit.
6
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Nature Genetics|2011
12.4k cit.
7
Analysis of protein-coding genetic variation in 60,706 humans
Nature|2016
10.3k cit.
8
The mutational constraint spectrum quantified from variation in 141,456 humans
Nature|2020
10.1k cit.
9
The Ensembl Variant Effect Predictor
Genome biology|2016
8.7k cit.
10
A general framework for estimating the relative pathogenicity of human genetic variants
Nature Genetics|2014
6.6k cit.

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