Sumaiya Nazeen
@snz20.bsky.social
Postdoctoral Research Fellow, DBMI, HMS, Neurology, BWH Sudarsky Scholar'22 MIT EECS SM'14, PhD'19 Fulbright S&T Fellow'12 Ludwig Center Fellow'15 She/Her/Hers
NERINE, a probabilistic rare variant burden test that integrates gene and protein networks to improve statistical power and biological interpretability @harvardmed.bsky.social www.cell.com/cell-genomic... www.cell.com/cell-genomic... @snz20.bsky.social t.co/vh5U6MF60f
HMS press release about our network-based statistical framework, NERINE, recently published in @cellpress.bsky.social
New Tool Helps Uncover Rare Genetic Mutations in Common Diseases, Including Parkinson’s
NERINE bridges model systems and human genetics, points to potential drug targets
hms.harvard.edu
Our network-based rare variant association framework, NERINE, is out in Cell Genomics: www.cell.com/cell-genomic... #StatisticalGenetics #Parkinson's #ComplexDiseaseGenetics #alpha-synuclein #prolactin #rare_variant_association
NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson’s disease
In this article, Nazeen, Khurana, Sunyaev, and colleagues present NERINE, a statistical test that links rare genetic variation in gene networks to human diseases, identifying new disease associations ...
cell.com
Excited to share our new preprint, "Inference of elevated mutation rates and variant effects using 700k exomes"! - www.biorxiv.org/content/10.6... Using gnomAD v4, we estimate per-variant missense selection coefficients, and find loss-of-function (LoF) mutations with enhanced mutation rates.
Inference of elevated mutation rates and variant effects using 700k exomes
Genomic sequencing is now widely accessible for genetic diagnostics and is emerging as a component of newborn screening. This technological development generates the need to characterize incoming muta...
biorxiv.org
www.anthropic.com/news/fable-m...
Statement on the US government directive to suspend access to Fable 5 and Mythos 5
The US government has issued an export control directive to suspend all access to Fable 5 and Mythos 5 by any foreign national, whether inside or outside the United States.
anthropic.com
My MPG primer talk from last week at the Broad Institute. Primers are weekly lectures on genetics topics related to human populations and disease. #RVAT #Stat #NERINE #Genetics #CAD #Parkinson's #StatGen Link to the talk: youtu.be/KO-6M5lXTlI?...
MPG Primer: Network-based rare variant association for complex diseases (2026)
YouTube video by Broad Institute
youtu.be
In my latest column, I explain some of my reasons for being deeply skeptical about AI models that claim to understand DNA, genes, and genomes: stevensalzberg.substack.com/p/ai-is-star...
AI is starting to look like pseudoscience
Not all of it, but some scientists are too eager to believe their own hype
stevensalzberg.substack.com
Our take-aways are that GWAS can be broadly linked to eQTLs—just not in humans (yet). This is probably due to selection and population history. We expect that as we find human eQTLs under stronger selection, colocalizations will increase.
Check out this exciting preprint from @noahconnally.bsky.social to see how studying other species may be useful for searching trait-associated eQTLs in humans.
@noahconnally.bsky.social · 6mo agoA new preprint out with Shamil Sunyaev. We talk about GWAS, gene expression, evolution, and why searching for trait-associated eQTLs is easier in cattle and pigs. www.biorxiv.org/content/10.6...
"… I realized that an environment where people would feel free to share their thoughts with me and think creatively, regardless of the power hierarchy, was exactly what I wanted in my lab." #ScienceWorkingLife https://scim.ag/4adQwdQ
I have to believe in the many worlds hypothesis because, somehow, we ended up in the worst of all possible worlds. I have to believe worlds that evaded this horrific fate must exist.
Jason Moore@moorejh.bsky.social · 6mo agooh boy clawXiv.org - e-Print archive for agents #artificialintelligence #publishing #agenticAI
European Scientists who said NO to Epstein-funding are the heroines of this hour🦸♀️ They show: It was your choice to SAY NO to Epstein's $ as scientist- you just had to have ethics & a spine Kudos to Physicist IVETTE FUENTES who said NO She was working at @quantumunivie.bsky.social @univie.ac.at
At a time when the UK should be capitalising on its global reputation as a great place to do science, this is an enormous own goal. I am so sorry for all those who jobs are going to be impacted.
Mark A. Hanson@hansonmark.bsky.social · 6mo agoBoth MRC and BBSRC responsive modes now withdrawn until further notice. Existing applications unlikely to succeed (late 2025 round expecting 1-5% success rate). Listen, I get that UKRI wants to pivot. But killing both at once is devastating. Let's hope at least one opens by summer... #AcademicSky
We are thrilled that our study on the evolution of gene regulation in mammalian cerebellum development – led by @ioansarr.bsky.social, @marisepp.bsky.social and @tyamadat.bsky.social, in collaboration with @steinaerts.bsky.social – is now out in @ScienceMagazine! www.science.org/doi/10.1126/...
The evolution of gene regulation in mammalian cerebellum development
Gene regulatory changes are considered major drivers of evolutionary innovations, including the cerebellum’s expansion during human evolution, yet they remain largely unexplored. In this study, we com...
science.org
Kaessmann Lab@kaessmannlab.bsky.social · last yr.How does gene regulation shape brain evolution? Our new preprint dives into this question in the context of mammalian cerebellum development! rb.gy/dbcxjz Led by @ioansarr.bsky.social, @marisepp.bsky.social and @tyamadat.bsky.social, in collaboration with @steinaerts.bsky.social
With all the excitement about AI giving us answers, we often forget that the real trick is to figure out what is the question! Thank you Tim Ferriss for recommending "What is the question" on the Night Science creative process in your newsletter! link.springer.com/article/10.1...
In a rapidly changing AI landscape, how do you stay relevant? Focus on timeless skills: 1. the ability to learn and have the curiosity to learn.
Check out the latest preprint from @j-e-mitchel.bsky.social on a new single-cell genetic colocalization tool, scJLIM, which shows significant power gain over bulk colocalization. It has been a pleasure being part of the effort!
Jonathan Mitchel@j-e-mitchel.bsky.social · 10mo agoSuper excited that my paper describing the scJLIM single-cell genetic colocalization tool is finally out on bioRxiv! scJLIM enables you to identify the specific cell states where GWAS genetic variants impact gene expression. Check it out! www.biorxiv.org/content/10.1...
We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics. www.biorxiv.org/content/10.1... (1/n)
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
We are deeply saddened to hear of the passing of Jane Goodall. Jane was a much-loved member of the conservation community in Cambridge and worldwide. She completed her PhD at @darwincollegecam.bsky.social and was an Honorary Fellow at @newnhamcollege.bsky.social. www.youtube.com/watch?v=ZIzR...
Jane Goodall - Finding our way to a better future
YouTube video by Cambridge University
youtube.com
The 2025 Ig Nobel-winning research was as wacky as ever. But wars, visa restrictions, Trump's border and research policies, and even an all-too-frequent airplane incident kept nearly half the winning teams from traveling to Boston @science.org www.science.org/content/arti...
The Ig Nobels are science’s most lighthearted event. This year is ‘not typical’
Amid Trump research cuts, visa restrictions, and international conflicts, some winners sit out the celebration of whimsical science
science.org
In a new preprint from @brianhie.bsky.social's lab, the team reports the first generative design of viable bacteriophage genomes. Leveraging Evo 1 & Evo 2, they generated whole genome sequences, resulting in 16 viable phages with distinct genomic architectures.
Brilliant paper by Visscher et al. Populations differ in traits/disease burden. Are these differences due to genetics? Comparing single variants or polygenic scores between populations is biased due to environmental confounders correlated with the variants. 1/3 www.medrxiv.org/content/10.1...
Direct effect of genetic ancestry on complex traits in a Mexican population
Human populations differ in disease prevalences and in average values of phenotypes, but the extent to which differences are caused by genetic or environmental factors is unknown for most complex trai...
medrxiv.org
More of "The AI Coming For Us". Well, one way it's going to take us out is if the next generation of folks relies on this slop for anything serious ....
Robert Aboukhalil@robert.bio · 11mo ago"The reference genome is essentially folded using the BWT, which allows the search for read alignments to take on a bow-tie shape in the index" Hmmm... @benlangmead.bsky.social
Whether we like it or not, AI is here and not going anywhere. The excellent colleagues behind @callingbullshit.bsky.social (@jevinwest.bsky.social & @carlbergstrom.com) now have a great resource to help us understand AI and how to deal with it. Highly recommended! thebullshitmachines.com/index.html
