evobioclio.bsky.social
Charikleia Karageorgiou (Clio)
@evobioclio.bsky.social
1.4K followers 910 following 130 posts
Postdoc at @UBuffalo | Gokcumen Lab Evolution, structural variants and population genetics. PhD from @UABBarcelona | Inversion polymorphism.
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evobioclio.bsky.social
Charikleia Karageorgiou (Clio) @evobioclio.bsky.social · Nov 22
The typeset version of our article, "Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation", is now online. This thread will provide an overview of how gene duplications have shaped modern variation in the amylase locus.
www.science.org/doi/10.1126/...
Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation
Previous studies suggested that the copy number of the human salivary amylase gene, AMY1, correlates with starch-rich diets. However, evolutionary analyses are hampered by the absence of accurate, seq...
www.science.org
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Reposted by Charikleia Karageorgiou (Clio)
aprilwei.bsky.social
April Wei @aprilwei.bsky.social · 8h
Excited to preprint our latest work (w/ Drew DeHaas, Zhibai Jia, Leo Speidel) on using ARGs for demographic inference. w/ applications using data from 1000 Genomes Project. www.biorxiv.org/content/10.1...
Inference of complex demographic history using composite likelihood based on whole-genome genealogies
Accurate parametric inference on complex demographic models is a continuing challenge in population genetics. Ancestral recombination graphs (ARGs) provide richer information than simple population ge...
www.biorxiv.org
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Reposted by Charikleia Karageorgiou (Clio)
awrgenes.bsky.social
Austin Reynolds @awrgenes.bsky.social · 6h
New preprint out with Brenna Henn, led by two fantastic grad students in our labs! www.biorxiv.org/content/10.1...
Recovering the pre-colonial population structure of Khoe-San descendant populations
San populations from Botswana and Namibia retain exceptional linguistic, cultural and genetic diversity, but few Khoisan-speaking groups remain south of the Kalahari Desert. However, historically, far...
www.biorxiv.org
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evobioclio.bsky.social
Charikleia Karageorgiou (Clio) @evobioclio.bsky.social · 6h
Hotspots of human mutation point to clonal expansions in spermatogonia - Nature
A systematic statistical genetics approach discovers CES drivers as hotspots of human de novo mutation and shows that clonal expansions in germline may both modulate the prevalence of disorders and lead to false-positive disease associations.
www.nature.com
2
Reposted by Charikleia Karageorgiou (Clio)
mattneville.bsky.social
Matthew Neville @mattneville.bsky.social · 7h
Now published! Our paper on:
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...
Sperm sequencing reveals extensive positive selection in the male germline - Nature
A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.
www.nature.com
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evobioclio.bsky.social
Charikleia Karageorgiou (Clio) @evobioclio.bsky.social · 11h
Epistasis among clustered lineage-specific adaptive amino acid substitutions in the Drosophila Trio protein
Intramolecular epistasis is increasingly recognized as a key factor shaping patterns of evolutionary rate variation among protein sites and constraining adaptive evolution. While genome-wide analyses ...
www.biorxiv.org
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Reposted by Charikleia Karageorgiou (Clio)
biorxivpreprint.bsky.social
bioRxivpreprint @biorxivpreprint.bsky.social · 23h
Long-read sequencing reveals telomere inheritance patterns from human trios https://www.biorxiv.org/content/10.1101/2025.10.07.680721v1
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Reposted by Charikleia Karageorgiou (Clio)
mydennis.bsky.social
Megan Dennis @mydennis.bsky.social · 1d
Happy to share work spearheaded by former grad student Colin Shew testing shared duplicated cis regulatory elements (CREs) using an MPRA. While we find some high effect CREs, collectively paralog differences represent modest effects accounting for observed gene expression divergence.
biorxiv-genomic.bsky.social
bioRxiv Genomics @biorxiv-genomic.bsky.social · 3d
Influence of cis-regulatory elements on regulatory divergence in human segmental duplications https://www.biorxiv.org/content/10.1101/2025.10.03.680410v1
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Reposted by Charikleia Karageorgiou (Clio)
jmkreiner.bsky.social
Julia Kreiner @jmkreiner.bsky.social · 2d
Human-mediated land-use and climate change occur simultaneously, but how do they interact to shape adaptive dynamics? Super excited to share the first paper from the Kreiner lab, led by postdoc extraordinaire @rpineau.bsky.social
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Reposted by Charikleia Karageorgiou (Clio)
aigverte.bsky.social
Alexa Sadier @aigverte.bsky.social · 3d
Please RT! Together with the fantastic @jcarnesecchi.bsky.social we are looking for a M2 student. The internship will take place primarily in her lab at IGMM with a part at ISEM (5-10min away). Don't miss this unique opportunity to mix molecular and cellular experiments with evolution. Apply!
jcarnesecchi.bsky.social
Julie Carnesecchi @jcarnesecchi.bsky.social · 3d
M2 internship (funded, 6months) in Montpellier — IGMM × ISEM with amazing @aigverte.bsky.social
Project: Hox factors beyond DNA: how RNA binding links molecules to body-plan evolution.
Start: early 2026
Apply: CV+motivation
#Master2 #Internship #Montpellier #RNA #Hox #EvoDevo #Drosophila #Bat
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Reposted by Charikleia Karageorgiou (Clio)
corteslab.bsky.social
CortésLab @corteslab.bsky.social · 4d
Kickstarting our Bluesky🦋 account with great news!
Our REPAIRome study finally out today in
@science.org
www.science.org/doi/10.1126/...
A comprehensive genetic catalog of human double-strand break repair
The analysis of DNA sequence outcomes provides molecular insights into double-strand break (DSB) repair mechanisms. Using parallel in-pool profiling of Cas9-induced insertions and deletions (indels) w...
www.science.org
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evobioclio.bsky.social
Charikleia Karageorgiou (Clio) @evobioclio.bsky.social · 4d
Such a great paper, congratulations to the whole team!
1
Reposted by Charikleia Karageorgiou (Clio)
levine-lab.bsky.social
Mia Levine @levine-lab.bsky.social · 4d
Check out this new Levine-Lampson collaboration, led by the talented Hyuk-Joon Jeon.

We explored the consequences of inheriting long telomeres from dad and short telomeres from mom. Or the reciprocal. Turns out, parent-of-origin matters (in mice, at least).

authors.elsevier.com/c/1loW-3QW8S...
authors.elsevier.com
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Reposted by Charikleia Karageorgiou (Clio)
genetics-gsa.bsky.social
Genetics Society of America @genetics-gsa.bsky.social · 5d
In #GENETICS, @johriparul.bsky.social and Brian Charlesworth examine the consequences of the gene model for the genetic and inbreeding loads, showing how the gene model results in a slightly lower genetic load, but a much smaller inbreeding load. buff.ly/dKn1606
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Reposted by Charikleia Karageorgiou (Clio)
genetics-gsa.bsky.social
Genetics Society of America @genetics-gsa.bsky.social · 5d
New work in #GENETICS from @johriparul.bsky.social and Brian Charlesworth present a gene-based model of fitness that predicts positive linkage disequilibrium between deleterious variants. buff.ly/Kr4Knk2
1 1
Reposted by Charikleia Karageorgiou (Clio)
anaignatieva.bsky.social
Ana Ignatieva @anaignatieva.bsky.social · 5d
Delighted that our paper about the distribution of genomic spans of clades/edges in genealogies (ARGs), and using this for detecting inversions and other SVs (and other phenomena that cause local disruption of recombination) is out in MBE academic.oup.com/mbe/article/... (1/n)
The Length of Haplotype Blocks and Signals of Structural Variation in Reconstructed Genealogies
Abstract. Recent breakthroughs have enabled the accurate inference of large-scale genealogies. Through modelling the impact of recombination on the correla
academic.oup.com
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Reposted by Charikleia Karageorgiou (Clio)
fueyoraquel.bsky.social
Raquel Fueyo @fueyoraquel.bsky.social · 7d
Today in @nature.com, we present our work leveraging functional genomics and human blastoids to uncover a human-specific mechanism in preimplantation development driven by the endogenous retrovirus HERVK.
Special thanks to the reviewers whose comments improved our manuscript a lot! rdcu.be/eI3tD
A human-specific regulatory mechanism revealed in a pre-implantation model
Nature - Genetic manipulation of blastoids reveals the role of recently emerged transposable elements and genes in human development.
rdcu.be
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Reposted by Charikleia Karageorgiou (Clio)
Heng Li @lh3lh3.bsky.social · 8d
Do you know ~60% of human SVs fall in ~1% of GRCh38? See our new preprint: arxiv.org/abs/2509.23057 and the companion blog post on how we started this project and longdust: lh3.github.io/2025/09/29/o.... Work with Alvin Qin
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Reposted by Charikleia Karageorgiou (Clio)
biorxiv-genetic.bsky.social
bioRxiv Genetics @biorxiv-genetic.bsky.social · 9d
Mutation bias in driver genes reveals the distribution of effects of oncogenic mutations https://www.biorxiv.org/content/10.1101/2025.09.25.678277v1
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Reposted by Charikleia Karageorgiou (Clio)
popgroup2026.bsky.social
POPGROUP59 @popgroup2026.bsky.social · 9d
Exciting news!
The next #PopGroup meeting will take place in Lille 🍟, France, 7–9 January 2026 – just 1 hour by train from London, Brussels, and Paris.

This year, PopGroup will also host ALPHY, the annual meeting of Evolutionary Genomics.

More info: populationgeneticsgroup.org.uk

See you there !
Population Genetics group 59
populationgeneticsgroup.org.uk
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evobioclio.bsky.social
Charikleia Karageorgiou (Clio) @evobioclio.bsky.social · 10d
Megabase-scale human genome rearrangement with programmable bridge recombinases
Bridge recombinases are naturally occurring RNA-guided DNA recombinases that we previously demonstrated can programmably insert, excise, and invert DNA in vitro and in Escherichia coli. In this study,...
www.science.org
2
Reposted by Charikleia Karageorgiou (Clio)
emjo.bsky.social
Emily Josephs @emjo.bsky.social · 11d
Another year using @kitchensjn.bsky.social + @gcbias.bsky.social's intuitive circle plots to discuss human genetic variation in my undergrad genetics class james-kitchens.com/blog/visuali...
Visualizing Human Genetic Diversity
A key insight from human genetics is that, as a species, we are all very genetically similar to one another and share much of our genetic variation. Our genome can be depicted as a string of letters (...
james-kitchens.com
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evobioclio.bsky.social
Charikleia Karageorgiou (Clio) @evobioclio.bsky.social · 11d
@lulandau.bsky.social
1
Reposted by Charikleia Karageorgiou (Clio)
rjhfmstr.bsky.social
Robin Hofmeister @rjhfmstr.bsky.social · 12d
🚨 New preprint out!
We reconstructed parental haplotypes in >440k individuals (UK & Estonian biobanks) to estimate assortative mating directly in the parental generation.
This reveals intensified assortment in recent generations.
www.biorxiv.org/content/10.1...
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evobioclio.bsky.social
Charikleia Karageorgiou (Clio) @evobioclio.bsky.social · 12d
Genome-wide diversity of chromosomal inversions and their disease relationships
Chromosomal inversions shape evolution and are implicated in human disease, yet their effects on genomic variation and health outcomes remain poorly understood. We analyze genome-wide human inversion ...
www.biorxiv.org
5
evobioclio.bsky.social
Charikleia Karageorgiou (Clio) @evobioclio.bsky.social · 14d
The formation and propagation of human Robertsonian chromosomes
Nature - Analysis of human Robertsonian chromosomes originating from 13, 14 and 21 reveal that they result from breaks at the SST1 macrosatellite DNA array and recombination between homologous...
rdcu.be
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