Leaderboards/Genomic variations and chromosomal abnormalities

Genomic variations and chromosomal abnormalities

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
Vassily Trubetskoy
Roche (Switzerland)
2
Moritz Smolka
Baylor College of Medicine
3
Joshua Backman
Regeneron (United States)
4
Simone Rubinacci
Broad Institute
5
Robin Steinhaus
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
6
Ruben M. Drews
GlaxoSmithKline (United Kingdom)
7
Jana Ebler
Research Institute of Molecular Pathology
8
Bjarne Daenekas
Broad Institute
9
Steven Laurie
Centro Nacional de Análisis Genómico
10
Alexander J.M. Dingemans
Radboud University Nijmegen

Papers

1
Detection of mosaic and population-level structural variants with Sniffles2
Nature Biotechnology|2024
439 cit.
2
Publication in Nature Medicine (2025) [43 citations, W4406537089]
Nature Medicine|2025
43 cit.
3
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
Nature Medicine|2024
12 cit.
4
Abstract 4605: Exploring resistance mechanisms in cancer using patient-derived organoids reveals replication stress and EMT as potential biomarkers
Cancer Research|2025
0 cit.

Emerging Leaders

Drafting the new consensus

Researchers

1
Karen H. Miga
University of California, Santa Cruz
2
Arang Rhie
National Human Genome Research Institute
3
Taylor Applebaum
Google DeepMind (United Kingdom)
4
Žiga Avsec
Google DeepMind (United Kingdom)
5
Clare Bycroft
Google DeepMind (United Kingdom)
6
Akvilė Žemgulytė
Google DeepMind (United Kingdom)
7
Joshua Pan
Google DeepMind (United Kingdom)
8
Melanie H. Kucherlapati
Brigham and Women's Hospital
9
Ina Felau
National Cancer Institute
10
Andrew K. Godwin
The University of Kansas Cancer Center

Papers

1
Accurate proteome-wide missense variant effect prediction with AlphaMissense
Science|2023
2k cit.
2
Complete genomic and epigenetic maps of human centromeres
Science|2022
626 cit.
3
The complete sequence of a human Y chromosome
Nature|2023
461 cit.
4
Semi-automated assembly of high-quality diploid human reference genomes
Nature|2022
229 cit.
5
Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies
Nature Methods|2022
123 cit.
6
Co-expression patterns explain how a basic transcriptional role for MYC modulates <i>Wnt</i> and MAPK pathways in colon and lung adenocarcinomas
Cell Cycle|2022
5 cit.
7
From complete genomes to pangenomes
The American Journal of Human Genetics|2024
5 cit.
8
Predictions for AlphaMissense
Zenodo (CERN European Organization for Nuclear Research)|2023
4 cit.
9
Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance
bioRxiv (Cold Spring Harbor Laboratory)|2025
3 cit.
10
Predictions for AlphaMissense
Zenodo (CERN European Organization for Nuclear Research)|2023
2 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
Evan E. Eichler
University of Washington
2
Stephen W. Scherer
University of Toronto
3
Håkon Håkonarson
Children's Hospital of Philadelphia
4
X. Shirley Liu
Harbin Medical University
5
Wei Li
Harbin Medical University
6
Michael Wigler
Cold Spring Harbor Laboratory
7
Matthew E. Hurles
Wellcome Sanger Institute
8
David Reich
Broad Institute
9
Gad Getz
Broad Institute
10
Michael R. Stratton
Wellcome Sanger Institute

Papers

1
Model-based Analysis of ChIP-Seq (MACS)
Genome biology|2008
19.9k cit.
2
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Nucleic Acids Research|2010
15.6k cit.
3
Principal components analysis corrects for stratification in genome-wide association studies
Nature Genetics|2006
10.7k cit.
4
Signatures of mutational processes in human cancer
Nature|2013
10.1k cit.
5
TIMER: A Web Server for Comprehensive Analysis of Tumor-Infiltrating Immune Cells
Cancer Research|2017
6.6k cit.
6
Mutational heterogeneity in cancer and the search for new cancer-associated genes
Nature|2013
5.7k cit.
7
Population Structure and Eigenanalysis
PLoS Genetics|2006
5.7k cit.
8
TIMER2.0 for analysis of tumor-infiltrating immune cells
Nucleic Acids Research|2020
5.7k cit.
9
Signatures of T cell dysfunction and exclusion predict cancer immunotherapy response
Nature Medicine|2018
5.6k cit.
10
Global variation in copy number in the human genome
Nature|2006
4.4k cit.

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