Sara Carioscia
@saracarioscia.bsky.social
Human genetics & evolution | PhD student with Rajiv McCoy at Johns Hopkins | Bikes | https://scarioscia.github.io/
Reposted by Sara Carioscia
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...
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...
August 22, 2025 at 7:50 PM
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...
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
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...
Validate User
doi.org
July 14, 2025 at 3:18 PM
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...
Reposted by Sara Carioscia
Really excited to see this published! To more mum-finding 🍻
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....
June 17, 2025 at 3:01 PM
Really excited to see this published! To more mum-finding 🍻
Reposted by Sara Carioscia
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
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
May 27, 2025 at 7:35 PM
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
Mumemto scales to the new HPRC v2 release and beyond, and can merge in future assemblies without any recomputation! 1/n
😭😭🥰🥰
Congrats to Dr. @saracarioscia.bsky.social and Dr. Dylan Taylor!!
May 23, 2025 at 11:01 AM
😭😭🥰🥰
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!
May 16, 2025 at 1:27 PM
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
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!
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:
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:
Assembling unmapped reads reveals hidden variation in South Asian genomes https://www.biorxiv.org/content/10.1101/2025.05.14.653340v1
May 15, 2025 at 7:28 PM
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!
Check out this new work from my friend Arun!! ⬇️
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:
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:
Assembling unmapped reads reveals hidden variation in South Asian genomes https://www.biorxiv.org/content/10.1101/2025.05.14.653340v1
May 15, 2025 at 3:21 PM
Check out this new work from my friend Arun!! ⬇️
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
May 14, 2025 at 12:43 PM
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
Excited for this - visualizing pangenomes!! #bog25
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 👀
May 9, 2025 at 4:27 PM
Excited for this - visualizing pangenomes!! #bog25
Reposted by Sara Carioscia
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 👀
May 9, 2025 at 4:26 PM
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 👀
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
May 7, 2025 at 5:26 PM
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
I am FLOORED by this painting of Fig 1 from my PhD project by my labmate @smyan.bsky.social. Thank you Steph ❤️
April 30, 2025 at 2:24 PM
I am FLOORED by this painting of Fig 1 from my PhD project by my labmate @smyan.bsky.social. Thank you Steph ❤️
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
April 28, 2025 at 8:07 PM
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
Thanks to my lab mate @aabiddanda.bsky.social for this incredible gift!! I love the @wmata.com seasonal train 🥰🌸
April 18, 2025 at 7:41 PM
Thanks to my lab mate @aabiddanda.bsky.social for this incredible gift!! I love the @wmata.com seasonal train 🥰🌸
Reposted by Sara Carioscia
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...
www.medrxiv.org/content/10.1...
April 7, 2025 at 2:27 PM
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...
www.medrxiv.org/content/10.1...
My main PhD work is up! See thread below. I would love to discuss! www.medrxiv.org/content/10.1...
April 7, 2025 at 2:20 PM
My main PhD work is up! See thread below. I would love to discuss! www.medrxiv.org/content/10.1...
Reposted by Sara Carioscia
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...
April 7, 2025 at 2:01 PM
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...
I got the @wmata.com cherry blossom train this morning!!!! 🌸
April 2, 2025 at 1:22 PM
I got the @wmata.com cherry blossom train this morning!!!! 🌸
Please, please engage with this call for input! This intersection is so! freakin! dangerous! for pedestrians and cyclists (and even cars!). We drafted responses for you in this post ⬇️⬇️⬇️
Have you had a terrifying experience crossing Lynn Street between the MVT and Custis Trail? VDOT is conducting a survey of the Route 29 Corridor in @rosslynva to identify safety improvements. Comments are due by March 12th.
Read our suggested comments here: buff.ly/K4MAKSs
Read our suggested comments here: buff.ly/K4MAKSs
March 12, 2025 at 9:53 PM
Please, please engage with this call for input! This intersection is so! freakin! dangerous! for pedestrians and cyclists (and even cars!). We drafted responses for you in this post ⬇️⬇️⬇️
Sorry I missed your call, I just watched my @wmata.com rewind four times
January 15, 2025 at 4:06 PM
Sorry I missed your call, I just watched my @wmata.com rewind four times
Just edited directly on main on github.com and it.... felt great, as always
January 14, 2025 at 6:28 PM
Just edited directly on main on github.com and it.... felt great, as always
Reposted by Sara Carioscia
Kicking off the 2024 Chromosomes and Chromatin fall symposium with a talk by Sara Carioscia on the Genetic architecture of meiotic recombination and aneuploidy across 145,045 in vitro fertilized embryos. epigenome.jhu.edu
December 16, 2024 at 2:11 PM
Kicking off the 2024 Chromosomes and Chromatin fall symposium with a talk by Sara Carioscia on the Genetic architecture of meiotic recombination and aneuploidy across 145,045 in vitro fertilized embryos. epigenome.jhu.edu