BEAGL · University at Buffalo

What makes us human?

We are the Buffalo Evolutionary and Anthropological Genomics Laboratory. We study structural variation — the duplications, deletions and rearrangements that reshape genomes — to understand how genetic differences produce biological diversity and disease, in living and ancient human populations.

Our research Meet the lab

Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation

What makes us human?

Buffalo Evolutionary and Anthropological Genomics Laboratory (BEAGL) — investigating how genetic variation explains biological diversity and disease in modern and ancient human populations.

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WHAT WE DO

We investigate the contributions of genomic structural variations—beyond single nucleotide variations—to human evolution, combining tools from genomics, functional genetics, anthropology, and evolutionary biology to mechanistically link genetic variation to phenotypic diversity.

RESEARCH INTERESTS

Mutation

What different mutational mechanisms shape the size, functional impact, and genomic distribution of different types of genomic structural variation?

Evolutionary Process

What evolutionary processes maintain (ancient) functional, structural variants that we share with Neanderthals?

Function

How do different types of SVs affect biological function at the genetic, transcriptomic, cellular, and organismal levels?

In the lab

Omer Gokcumen (centre) with lab members Alber Aqil, Luane Landau, Petar Pajic, Kendra Scheer and Charikleia Karageorgiou in a research lab in Hochstetter Hall — The lab, Hochstetter Hall

Gokcumen Lab — With Stefan Ruhl — With Stefan Ruhl

Lab portrait: Meredith Forrest Kulwicki / University at Buffalo

OUR WORK

Our latest publications

Convergent evolution through independent rearrangements in the primate amylase locus

Rapid evolution of mouse saliva through regulatory rewiring and gene expansions

Evolutionary Process, Function, Mutation

Structural variation in context: mechanisms, functions and selection regimes across the tree of life

Evolutionary Process, Function, Mutation

Evolutionary balancing of genetic consequence and innovation in mammals through variable number tandem repeats

Evolutionary Process, Function, Mutation

Saliva Protein Genes in Humans were Shaped During Primate Evolution Open Access

Evolutionary Process, Function, Mutation

Switch-like gene expression modulates disease risk

Evolutionary Process, Function, Mutation

Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation

Introduction to Gokcumen Lab

See all videos and podcasts >

Special Issue: Functional and Adaptive Effects of Genomic Structural Variation in Heredity

The New York Times on “Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation”

Naked Scientists podcast – On ancient variations and Neanderthals

NPR – Radiolab: On Neanderthals and poop

BBC Interview

Omer Açık Radyo’da insan evrimi ve çeşitliliği üzerine konuşuyor

Our work has been picked up by several press outlets. See latest.

Evolutionary Process, Function

New paper: Amylase gene copy number rose rapidly in Indigenous Andeans

September 13, 2026

Kendra Scheer led this study, now out in Nature Communications. Working with Tom Brutsaert, Abigail Bigham and colleagues in Peru,

Function, Mutation

New paper: Polymorphic duplications can generate false trans-eQTLs

September 11, 2026

Alber Aqil led this one, out in the American Journal of Human Genetics. The short version: when sequencing reads coming

Evolutionary Process, Function

New paper: Structural evolution of proline-rich protein genes in primate saliva

September 9, 2026

Out in Molecular Biology and Evolution, led by Aguado and Pajic, with Charikleia Karageorgiou, Sarah Kassem and Stefan Ruhl among

Jobs

Postdoctoral Position in Structural Variation and Evolutionary Genomics

July 18, 2026

We are seeking a highly motivated Postdoctoral Research Associate to join our research program at the intersection of human genetics,

Evolutionary Process, Function, Mutation

Postdoctoral Research Opportunity: Lipid Biology, Cell Death, and Evolutionary Genomics

August 3, 2025

We are seeking a highly motivated Postdoctoral Research Associate to join our collaborative research program at the intersection of lipid

Function

Write-up on our publication with Atilla Lab on lipids’ role in necroptosis

August 11, 2023

We helped Atilla lab to analyze transcriptomics data to investigate the role of lipid pathways in necroptosis. This paper is

Mutation

New paper: Odd interactions between short RNAs and structural variation

July 1, 2023

X’s lab led this study on extensive long-read sequencing of multiple bird genomes and follow-up comparative/functional analysis to find interesting

Our work has been picked up by several press outlets. See latest.

Evolutionary Process, Function

New paper: Amylase gene copy number rose rapidly in Indigenous Andeans

September 13, 2026

Kendra Scheer led this study, now out in Nature Communications. Working with Tom Brutsaert, Abigail Bigham and colleagues in Peru,

Function, Mutation

New paper: Polymorphic duplications can generate false trans-eQTLs

September 11, 2026

Alber Aqil led this one, out in the American Journal of Human Genetics. The short version: when sequencing reads coming

Evolutionary Process, Function

New paper: Structural evolution of proline-rich protein genes in primate saliva

September 9, 2026

Out in Molecular Biology and Evolution, led by Aguado and Pajic, with Charikleia Karageorgiou, Sarah Kassem and Stefan Ruhl among

Jobs

Postdoctoral Position in Structural Variation and Evolutionary Genomics

July 18, 2026

We are seeking a highly motivated Postdoctoral Research Associate to join our research program at the intersection of human genetics,

Evolutionary Process, Function, Mutation

Postdoctoral Research Opportunity: Lipid Biology, Cell Death, and Evolutionary Genomics

August 3, 2025

We are seeking a highly motivated Postdoctoral Research Associate to join our collaborative research program at the intersection of lipid

Function

Write-up on our publication with Atilla Lab on lipids’ role in necroptosis

August 11, 2023

We helped Atilla lab to analyze transcriptomics data to investigate the role of lipid pathways in necroptosis. This paper is

Mutation

New paper: Odd interactions between short RNAs and structural variation

July 1, 2023

X’s lab led this study on extensive long-read sequencing of multiple bird genomes and follow-up comparative/functional analysis to find interesting

Data and Code

Visit our GitHub repo for codes, applications, and datasets. The links to primary datasets can be found in the relevant publications.