Sara Carioscia
@saracarioscia.bsky.social
160 followers 390 following 22 posts
Human genetics & evolution | PhD student with Rajiv McCoy at Johns Hopkins | Bikes | https://scarioscia.github.io/
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Reposted by Sara Carioscia
aguirre404.bsky.social
Thrilled to share the second half of my PhD work here!

We show how data on expression quantitative trait loci (eQTL) relates to the structure of gene regulatory networks (GRN). Much of the GRN / eQTL picture is unmapped, but what we do have says a lot… (1/)

doi.org/10.1101/2025...
Reposted by Sara Carioscia
merusadhu.bsky.social
New paper from my lab! We describe our idea that high-throughput pooled experimental methods – typically used to test thousands of hypotheses at once – also have huge potential to help in “everyday” experiments testing one or a few focused hypotheses. Why? Two reasons: doi.org/10.1093/g3jo...
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doi.org
Reposted by Sara Carioscia
vikramshivakumar.bsky.social
Really excited to see this published! To more mum-finding 🍻
benlangmead.bsky.social
Now published! Note that since Vikram's original post (quoted here), he's made it easy to dynamically update a set of multi-MUMs (e.g. when more genomes are added to a pangenome) and to find multi-MUMs for huge collections like HPRCv2 genomebiology.biomedcentral.com/articles/10....
Reposted by Sara Carioscia
vikramshivakumar.bsky.social
Excited to share a new update to Mumemto, scaling MUM and conserved element finding to any size pangenome! Preprint out now w/ @benlangmead.bsky.social.
Mumemto scales to the new HPRC v2 release and beyond, and can merge in future assemblies without any recomputation! 1/n
Partitioned Multi-MUM finding for scalable pangenomics
Pangenome collections are growing to hundreds of high-quality genomes. This necessitates scalable methods for constructing pangenome alignments that can incorporate newly-sequenced assemblies. We prev...
www.biorxiv.org
saracarioscia.bsky.social
I'm defending my PhD next Friday, May 23!(!!!!). I'll be highlighting our work looking at aneuploidy in early human development. If you're interested I'd love to have you join via Zoom (DM me for info) or on the Homewood campus!
Reposted by Sara Carioscia
aabiddanda.github.io
Really cool work from @arun-das.bsky.social on recovering sequence from unmapped reads (even with T2T reference or HPRC pangenomes!). Can recover a decent amount of sequence per individual using these approaches. Check it out!
arun-das.bsky.social
Our pre-print on investigating variation in South Asian genomes is now out!

Thank you to @mikeschatz.bsky.social, @rajivmccoy.bsky.social and @aabiddanda.bsky.social for all their work on this.

🧵 A thread on the key results and takeaways from our work:
biorxiv-genomic.bsky.social
Assembling unmapped reads reveals hidden variation in South Asian genomes https://www.biorxiv.org/content/10.1101/2025.05.14.653340v1
saracarioscia.bsky.social
Check out this new work from my friend Arun!! ⬇️
arun-das.bsky.social
Our pre-print on investigating variation in South Asian genomes is now out!

Thank you to @mikeschatz.bsky.social, @rajivmccoy.bsky.social and @aabiddanda.bsky.social for all their work on this.

🧵 A thread on the key results and takeaways from our work:
biorxiv-genomic.bsky.social
Assembling unmapped reads reveals hidden variation in South Asian genomes https://www.biorxiv.org/content/10.1101/2025.05.14.653340v1
saracarioscia.bsky.social
Biology of Genomes last week was awesome! Got some ideas in my poster session, met my online friends in real life, and saw a lot of cool new science #bog25
saracarioscia.bsky.social
Excited for this - visualizing pangenomes!! #bog25
vikramshivakumar.bsky.social
Excited to share our latest work on comparing and visualizing multiple genome assemblies to identify conservation and structural variation in pangenomes with Mumemto! Check out poster 250 at #bog25 if you are here. New preprint coming very soon 👀
Reposted by Sara Carioscia
vikramshivakumar.bsky.social
Excited to share our latest work on comparing and visualizing multiple genome assemblies to identify conservation and structural variation in pangenomes with Mumemto! Check out poster 250 at #bog25 if you are here. New preprint coming very soon 👀
saracarioscia.bsky.social
If you are here at #bog25 please check out my poster (number 87) tonight! 😁 Showing our work on common variation associated with aneuploidy in human embryos
saracarioscia.bsky.social
I am FLOORED by this painting of Fig 1 from my PhD project by my labmate @smyan.bsky.social. Thank you Steph ❤️
saracarioscia.bsky.social
I had an incredible time at the Mutations in Time and Space conference last week! There were a ton of interesting talks and I so appreciate the engagement with my work. Excited for more! #MITS25
saracarioscia.bsky.social
Enjoyed giving my talk yesterday at Mutations in Time and Space! Excited for two more days of #MITS25
craigandersn.bsky.social
Sara Carioscia is next up to speak! #MITS25
saracarioscia.bsky.social
Thanks to my lab mate @aabiddanda.bsky.social for this incredible gift!! I love the @wmata.com seasonal train 🥰🌸
Reposted by Sara Carioscia
aabiddanda.github.io
Thrilled to see this work out - its been fascinating to look at statistical genetics in these IVF embryo datasets underlying meiotic aneuploidies and recombination! Joint work led with @saracarioscia.bsky.social. See thread below, thoughts welcome!

www.medrxiv.org/content/10.1...
saracarioscia.bsky.social
My main PhD work is up! See thread below. I would love to discuss! www.medrxiv.org/content/10.1...
Reposted by Sara Carioscia
rajivmccoy.bsky.social
Aneuploidy is the leading cause of pregnancy loss. In work led by @saracarioscia.bsky.social and @aabiddanda.bsky.social, we reanalyzed genetic testing data from 139,416 IVF embryos to discover variants associated with recombination phenotypes and aneuploidy risk. www.medrxiv.org/content/10.1...
saracarioscia.bsky.social
Thank you for the close read and highlight @shaicarmi.bsky.social!