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Jeff Spence

@jeffspence.github.io
1.2K followers 912 following 188 posts

assistant professor at ucsf interested in genetics, statistics, etc… jeffspence.github.io

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Reposted by Jeff Spence
Masahiro Kanai @masakanai.bsky.social · 4h
Our single-nucleus immune multiome atlas is now out in @nature.com! 🧬 10M PBMCs from 1,108 @finngen.bsky.social donors recruited by Finnish Blood Service, profiled at @broadinstitute.org with chromatin accessibility and gene expression in the same nuclei, to trace how disease variants act 🧵👇
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Ellen Leffler @ellenleffler.bsky.social · 4h
My department at University of Utah is recruiting new faculty, with "Human" and "Genetics" broadly defined. It is a fantastic place to start a lab, with collaboration, creativity and conviviality encouraged. Applications due Oct 16. Please share and apply! utah.peopleadmin.com/postings/208...
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Genetics Society of America @genetics-gsa.bsky.social · 29/09/2026
The September issue of #GENETICS features work from @jonj-udd.bsky.social, @jeffspence.github.io, & Co which determines how genes associated with human recessive disorders fit the predictions of the classic theory of mutation–selection balance. 🔗 buff.ly/v8FpWWA
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Institute for Human Genetics at UCSF @ihgatucsf.bsky.social · 25/09/2026
We invite you to join our seminar at UCSF Mission Bay campus with @ygilad.bsky.social from the University of Chicago humangenetics.ucsf.edu/ihg-seminar-...
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Tom Booker @tombooker.bsky.social · 24/09/2026
I’m keen to share this preprint. There is growing evidence that associative overdominance leads to the maintenance heterozygosity and we wondered how this would affect variance for traits under stabilizing selection: www.biorxiv.org/content/10.6...
biorxiv.org
Maintenance of quantitative genetic variation in regions of restricted recombination via associative overdominance
Mutation-selection balance is the most plausible general mechanism for the maintenance of additive genetic variance (VA) for quantitative traits in natural populations. It is well established that the...
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Yun S. Song @yun-s-song.bsky.social · 23/09/2026
Please help spread the word! We are recruiting multiple Postdoctoral Fellows as part of the recently launched Bakar Computational Biomedicine Initiative (BCBI) at UC Berkeley and UCSF. BCBI website: bcbi.berkeley.edu Apply by Nov 1, 2026: berkeley.infoready4.com#freeformComp... (1/n)
bcbi.berkeley.edu
Bakar Computational Biomedicine Initiative | Bakar Computational Biomedicine Initiative
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Moi Expósito-Alonso (MOILAB) @mexpositoalonso.bsky.social · 21/09/2026
📣 We are looking for a PhD student in 2027! Interested in studying rapid evolutionary dynamics of species in changing climates? Apply to the MOI LAB by Nov 19! Flyer below & tinyurl.com/flyerphdmoilab @ucberkeleyofficial.bsky.social @innovativegenomics.bsky.social @hhmi-science.bsky.social
tinyurl.com
2027_PhD_RapidEvolutionGenomicsEcology-MoiLab_Berkeley-HHMI
PhD positions: Rapid evolutionary genomics in plants Moi Exposito-Alonso Lab — www.moilab.science Assistant Professor, Freeman Hrabowski Scholar HHMI · Department of Integrative Biology · Innovative G...
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Jeff Spence @jeffspence.github.io · 19/09/2026
Not a blog post, but @yundeng.bsky.social and co. convincingly showed (IMO) that it was a statistical artifact here: academic.oup.com/genetics/art...
academic.oup.com
A previously reported bottleneck in human ancestry 900 kya is likely a statistical artifact
Hu et al. (Science, 2023) recently inferred a severe ancient bottleneck around 900 thousand years (kya) ago in African ancestry but found no similar eviden
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Adam Auton @adamauton.bsky.social · 18/09/2026
What can we learn about a single rare variant? Published today in Science: the 23andMe Research Institute and Dana-Farber studied the EGFR T790M in 10.1M 23andMe research participants. The variant has OR = 25.2 for lung cancer, rising to 61.7 in never-smokers(!). 🧵
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Molly Przeworski @mollyprz.bsky.social · 16/09/2026
Work by Matin Saeidi and @will-milligan.bsky.social modeling mutator allele dynamics in humans, and asking what types of mutators we should expect to find by surveying offspring in trios.
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bioRxiv Genomics @biorxiv-genomic.bsky.social · 16/09/2026
PRDM9-mediated meiotic hotspot specification is constrained in humans despite extensive sequence diversity www.biorxiv.org/content/10.64898/20…
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Jeff Spence @jeffspence.github.io · 15/09/2026
We got a zojirushi neuro fuzzy a few years ago and it was shocking what a quality of life improvement it was. The rice is always amazing and it makes an incredible jook.
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Matthew Hahn @3rdreviewer.bsky.social · 15/09/2026
New paper with Trang Nguyen! Do you have only a single parent and offspring, but still want to calculate mutation rates? We've got the tool for you--OOPS github.com/TrangNg-Th/O... www.biorxiv.org/content/10.6...
biorxiv.org
Estimating de novo mutation rates using parent-offspring pairs
Existing pedigree approaches to identifying de novo mutations (DNMs) require at least two parents and a single offspring, limiting applicability. Here, we introduce OOPS (Only One Parent Sequencing), ...
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Kevin Bird @stairwaytokevin.bsky.social · 15/09/2026
Very cool paper and, although still not as cool as plants, a very exciting time to study human genetics and evolution!
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Yuval Simons @yuvalsim.bsky.social · 15/09/2026
The Carlson Lab at the University of Rochester is recruiting researchers at all levels! Please reach out to Maryn (marync.github.io/carlsonlab/i...) if you are interested in groundbreaking problems in population and quantitative genetics. Maryn is brilliant and will be a great mentor!
marync.github.io
Carlson Lab
The Carlson Lab works at the interface of population and quantitative genetics, statistics, and evolutionary biology.
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Ana Ignatieva @anaignatieva.bsky.social · 14/09/2026
We are advertising a 3 year postdoc position for a project on ARGs and structural variation! Based at Oxford stats. Closing date noon 12 October, full details here: my.corehr.com/pls/uoxrecru...
my.corehr.com
Job Details
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Jeffrey M Kidd @jeffreymkidd.bsky.social · 11/09/2026
This is a very nice review article from @pontus-skoglund.bsky.social and @mathiesoniain.bsky.social . Figure 2 gives a very nice summary of the different ways selection tests are calibrated. They also offer 5 succinct summaries of the current state of the field for humans.
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Yun Deng @yundeng.bsky.social · 14/09/2026
I am excited to share that I will be joining the Baker Institute for Animal Health and College of Veterinary Medicine at Cornell University as an Assistant Professor next spring! I am grateful to my mentors and colleagues who have supported me throughout this journey.
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Roshni Patel @roshnipatel.bsky.social · 14/09/2026
These are of course very old questions with tremendous recent progress; we focus mostly on the recent progress and what it offers for the next era of studying human genetics in biobanks. Excited this preprint is out and we'd of course love to hear any thoughts!
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Jeff Spence @jeffspence.github.io · 14/09/2026
Just to prevent disappointment among people really interested in very meta stuff, we focus on *relating selection on variants to selection on traits* not on _relating_ relating selection on variants to selection on traits.
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Jeff Spence @jeffspence.github.io · 14/09/2026
@roshnipatel.bsky.social and I wrote about using biobanks to learn about evolution, and how those findings shape interpretations of association studies. We focused on estimating evolutionary constraint and relating relating selection on variants to selection on traits and include open questions.
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Jeff Spence @jeffspence.github.io · 13/09/2026
I think I speak for all Jeffs here when I say ”you’re welcome”
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bioRxiv Genomics @biorxiv-genomic.bsky.social · 12/09/2026
Sparse Linear Algebra Accelerates Genotype Representation Graph Computation at Biobank Scale www.biorxiv.org/content/10.64898/20…
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Evgeny Kvon @evgenykvon.bsky.social · 24/08/2026
The newly established Department of Systems Biology (systems.bio.uci.edu) @UCIrvine is hiring a tenure-track Assistant Professor in Systems Biology. Great science, incredible faculty support, and beautiful, sunny SoCal weather! ☀️🌴 Details: recruit.ap.uci.edu/JPF10377. Please share.
recruit.ap.uci.edu
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Doc Edge @docedge.bsky.social · 12/09/2026
Please repost: My department (quantitative and computational biology at the University of Southern California) is hiring a teaching-track faculty member. The new hire will focus on teaching statistics courses to biology students. Apply by Dec 1 usccareers.usc.edu/job/los-ange...
usccareers.usc.edu
Full-Time, Teaching-Track Faculty Position in Quantitative and Computational Biology at USC
Learn more about applying for Full-Time, Teaching-Track Faculty Position in Quantitative and Computational Biology at USC
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Molly Przeworski @mollyprz.bsky.social · 11/09/2026
Job opportunity at Columbia U., in "any combination of field, experimental, computational, or theoretical approaches to study fundamental questions in evolutionary biology".
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loic-yengo.bsky.social @loic-yengo.bsky.social · 11/09/2026
I’m currently recruiting an experienced postdoc to join our team in Brisbane for at least two years, working on some cutting-edge problems in statistical genomics and genetic epidemiology. Link: uq.wd3.myworkdayjobs.com/en-GB/uqcare...
uq.wd3.myworkdayjobs.com
Postdoctoral Research Fellow/Research Fellow in Statistical Genomics
Institute for Molecular Bioscience Full-time fixed-term position for up to 2.5 years Base salary will be in the range $106,293.57 - $113,659.72 + 17% super (Academic Level A) or $119,462.94 - $141,545...
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Graham Coop @gcbias.bsky.social · 10/09/2026
I’m looking to hire an NIH funded postdoc to join our lab here at Davis (please RT). Ongoing areas of interest include: 1) polygenic signals of selection from time series, ARGs, GWAS, etc 2) The interpretation of GWAS, polygenic scores, & sources of confounding
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Ryan Gutenkunst @ryangutenkunst.bsky.social · 09/09/2026
Increasingly powerful methods are enabling increasing complex models of ancient human history to be inferred from population genomic data. In a recent review, I highlight two blind spots in these inferences: limitations of the methods and choices of models to fit. arxiv.org/abs/2608.27591
arxiv.org
Two blind spots in the demographic inference of human origins from genomic data
Ancient DNA and new inference methods have transformed the study of human origins, but consensus has not followed. Evidence increasingly indicates that hominin populations were pervasively structured ...
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Olivia Smith @oliviarxiv.bsky.social · 09/09/2026
Today, we at the @arbelharpak.bsky.social & @docedge.bsky.social labs are excited to share our updated manuscript for PGSUS, a tool for diagnosing confounding in polygenic scores (PGSs).
biorxiv.org
A Litmus Test for Confounding in Polygenic Scores
Polygenic scores (PGSs) are being rapidly adopted for trait prediction in the clinic and beyond. PGSs are often thought of as capturing the direct genetic effect of one's genotype on one's phenotype. ...
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Yun S. Song @yun-s-song.bsky.social · 09/09/2026
We are thrilled to share that our GPN-Star manuscript is now published and freely available: doi.org/10.1038/s415... (1/n)
doi.org
Predicting genome-wide functional constraints with GPN-Star - Nature
GPN-Star, a genomic language model with a phylogeny-aware architecture for whole-genome alignment data, is shown to be a scalable and flexible tool for genetic variant effect prediction across species...
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UCSF PROPEL @ucsf-propel.bsky.social · 04/09/2026
Applying to graduate school can be expensive. Did you know you may be eligible for fee waivers? Check out our fee waivers guide for more info
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UCSF PROPEL @ucsf-propel.bsky.social · 04/09/2026
Are you applying to graduate school this cycle? PROPEL has a series of workshops dedicated to helping you with this process!
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alex ioannidis @alexgioannidis.bsky.social · 01/09/2026
Gnomix is published! www.nature.com/articles/s41... Still the most accurate & fastest local ancestry inference (LAI) method, bests Flare and others (RecombMix & Orchestra) released since our preprint. Easy to use, github.com/AI-sandbox/g... Use it with our toolkit, snputils.org
nature.com
Scalable high resolution ancestry deconvolution for genomic data - Nature Communications
The authors present Gnomix, a local ancestry framework that delivers leading accuracy across diverse admixed datasets on both whole-genome and array data with high efficiency, together with Gnofix, it...
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Daniel Bolnick @danielbolnick.bsky.social · 01/09/2026
Darn it, I just finished writing my Applied Evolutionary Medicine book chapter on genetic disease 2 weeks ago, and now I already have to revise it in light of this very very cool new paper. Thanks a lot, @jkpritch.bsky.social :-)
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Genetics Society of America @genetics-gsa.bsky.social · 01/09/2026
🧬 Do genes associated with human recessive disorders fit the predictions of this classic model? Find the latest in #GENETICS where @jonj-udd.bsky.social, @jeffspence.github.io & Co measure observed frequencies to address the question. 🔗 buff.ly/1X2Youy
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Moi Expósito-Alonso (MOILAB) @mexpositoalonso.bsky.social · 01/09/2026
Nueva Iniciativa! 🎓 Preview Doctorado 🎓 Estas pensando en una tesis doctoral de biología en EEUU/USA pero tienes dudas de cómo afrontar la solicitud? Te gustaría conocer a profesores y doctorandos de UC Berkeley? Lee más información sobre nuestro programa de mentoría! tinyurl.com/previewdocto...
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Josh Weinstock @joshweinstock.bsky.social · 25/08/2026
Excited to share our latest foray into studying the ways in which germline variation gives rise to somatic variation in aging blood: www.medrxiv.org/content/10.6... In work led by @prarthana-s-r.bsky.social , we map how common and rare germline variation links to (somatic) passenger mutations 🧬🧵👇
medrxiv.org
Multi-ancestry analysis of 791K whole genomes reveals the genetic, geographic, and phenotypic correlates of somatic passenger mutations in blood
Clonal hematopoiesis (CH), an aging-related expansion of hematopoietic stem cell (HSC) clones, is associated with hematologic malignancy, cardiovascular disease, and mortality. Most clonal expansions,...
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Julia M. Rohrer @dingdingpeng.the100.ci · 24/08/2026
Just read this very cool blog post by @jkpritch.bsky.social about recessive genes. Very interesting topic and I really appreciate the accessible explanation of a paper that I'd never dare to pick up myself. jkpritchard.substack.com/p/are-any-ge...
jkpritchard.substack.com
Are any genes truly recessive?
Journal club: Judd et al 2026 -- a surprising result about natural selection in recessive genes
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Corrie Moreau @corriemoreau.bsky.social · 23/08/2026
📣 📣 📣 UPDATE: The 2026-2027 list of faculty and postdoc positions in ecology and evolutionary biology is out! Be sure to check out this active and helpful community run resource! docs.google.com/spreadsheets...
docs.google.com
ecoevojobs.net 2026-27
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Dan Schrider @samurscicop.bsky.social · 21/08/2026
Ages ago I shared a preprint about how gene conversion can cause hard selective sweeps to look like soft sweeps by copying the adaptive allele onto different haplotypes. The accepted version is now published in GENETICS: academic.oup.com/genetics/adv...
academic.oup.com
Allelic gene conversion softens selective sweeps
Abstract. The prominence of positive selection, in which beneficial mutations are favored by natural selection and rapidly increase in frequency, is a subj
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Nik Baya @nbaya.bsky.social · 19/08/2026
Introducing the BRaVa results browser v1! 🎉 1.2M+ individuals across 10 global biobanks 44 heritable, disease-relevant traits (and counting) 419M gene- & variant-level association tests ➡️ nikbaya.github.io/brava_browser/
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Institute for Human Genetics at UCSF @ihgatucsf.bsky.social · 18/08/2026
@ihgatucsf.bsky.social and @ucsfstemcell.bsky.social are excited to invite you to the Genotech Symposium on September 23! 📍 NEW LOCATION: Fisher Banquet Room, 1st Floor, Rutter Center Join us to foster collaboration between industry and academia in genetics and genomics! genotech.ucsf.edu
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Jeff Spence @jeffspence.github.io · 17/08/2026
Really excited for @yundeng.bsky.social's nice work to come out. As Yun details in his thread 👇, we wanted to develop a "recipe" for getting time-stratified versions of population genetics statistics from ARGs. We end up with interpretable, time-specific versions of the GRM and various f-stats. 🧬🧪
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Mark Pownall @mpownall.bsky.social · 17/08/2026
First preprint from the lab 🚨 We asked when and how global chromatin organization emerges during early development 🐟
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Hanbin Lee @epigenci.bsky.social · 15/08/2026
I saw this while playing with eGRM and thought my program had a bug. Turns out to be a feature rather than a bug, and the paper gives clear reasons behind the phenomenon. Lovely work.
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Yun Deng @yundeng.bsky.social · 15/08/2026
The first manuscript from my postdoc is out (doi.org/10.64898/202...)! We introduce 𝐭𝐢𝐦𝐞-𝐬𝐭𝐫𝐚𝐭𝐢𝐟𝐢𝐞𝐝 𝐬𝐭𝐚𝐭𝐢𝐬𝐭𝐢𝐜𝐬 for studying population structure change over time, with the temporal resolution of Ancestral Recombination Graphs (ARGs). Joint with @jkpritch.bsky.social and @jeffspence.github.io. 1/n
google.com
Coalescent-Based Time-Stratified Statistics Reveal Population Structure Dynamics using the Ancestral Recombination Graph
Many questions in population genetics are concerned with reconstructing evolutionary history through time, such as inferring how population structure has changed throughout the past. Yet, many existing approaches have only an implicit temporal component, using quantities such as allele frequency or haplotype length as rough proxies for age. Recent advances in the inference of Ancestral Recombination Graphs (ARGs) have made it possible to estimate the entire sequence of local genealogies along the genome. These genealogies explicitly encode how samples are related to each other at different time points in the past, enabling the inference of how population structure has changed over time. To this end, recent work has used ARGs to define time-stratified versions of widely-used population genetics summary statistics in an attempt to capture the population structure present within a particular time window. Here, we show that naive approaches result in statistics that cannot be interpreted solely in terms of the population structure present within the time window they are targeting. To address this problem, we introduce a framework of coalescent-based time-stratified statistics, which use coalescence probabilities to partition classical summary statistics into interval-specific contributions. Using coalescent simulations, we demonstrate that these statistics accurately isolate population structure at different temporal depths and avoid spurious signals. Our results highlight the necessity of integrating coalescent theory into ARG-based temporal analyses and provide a principled and practical foundation for studying the dynamics of population structure through time. ### Competing Interest Statement The authors have declared no competing interest. National Human Genome Research Institute, https://ror.org/00baak391, R01HG014005
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bioRxiv Evolutionary Biology @biorxiv-evobio.bsky.social · 15/08/2026
Coalescent-Based Time-Stratified Statistics Reveal Population Structure Dynamics using the Ancestral Recombination Graph www.biorxiv.org/content/10.64898/20…
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Jonathan Pritchard @jkpritch.bsky.social · 12/08/2026
I'm curious about the reasons why some people/labs choose NOT to preprint their papers, either for specific papers or in general. Do you have a sense of this, either for yourself or for colleagues and collaborators? [I have some guesses, but curious to hear from others]
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Stephan Schiffels @stschiff.bsky.social · 12/08/2026
If you are interested in learning computational population genetics and ancient genomics, I have curated my list of workshops and online tutorials (and will continue to do so) indicating suitability for self-learners and status. You find the list [here](www.stephanschiffels.de/resources.html).
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