Mariela Cortés López
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altspliced.bsky.social
Mariela Cortés López
@altspliced.bsky.social
470 followers 690 following 7 posts
Alternative splicing on alternative music.
#SingleCell #LongReads #RNA 🇲🇽
📍 NYC
https://mcortes-lopez.github.io/
https://www.songkick.com/users/alt_spliced
Posts Replies Media Videos
Reposted by Mariela Cortés López
leoschaerfen.bsky.social
Check out our work on RNA structure in introns! Testing >100k base pairing patterns, we found that RNA structure can predictably tune gene expression. Just by changing intron sequence, we see a dynamic range of regulation comparable to messing e.g. with promoters. @karlaneugebauer.bsky.social
November 10, 2025 at 5:32 PM
Reposted by Mariela Cortés López
nicorobine.bsky.social
We'll have to do a "March for mRNA" 🤦‍♂️
erictopol.bsky.social Eric Topol @erictopol.bsky.social · Aug 6
RFK Jr and HHS just ended all US supported mRNA vaccine development
www.hhs.gov/press-room/h...
www.hhs.gov
August 6, 2025 at 12:53 AM
Reposted by Mariela Cortés López
davidaknowles.bsky.social
Excited for this to be out officially! It was a great team effort and has a lot of useful tidbits for studying isoform function. www.nature.com/articles/s41...
Cas13d-mediated isoform-specific RNA knockdown with a unified computational and experimental toolbox - Nature Communications
The majority of human genes can produce multiple isoforms, but studying their functional relevance requires tools to target specific isoforms. Here, the authors develop a CRISPR-based exon-exon juncti...
www.nature.com
July 29, 2025 at 4:35 PM
Reposted by Mariela Cortés López
rberrens.bsky.social
Very happy to share our protocols paper for CELLO-seq. This will make single cell long read RNA-seq more accessible and provides analysis guidelines. We hope this helps the #transposon #TEsky community and folks working on #singleCell isoform and allelic #gene expression. doi.org/10.1038/s415...
Long-read RNA sequencing of transposable elements from single cells using CELLO-seq - Nature Protocols
Single-cell long-read RNA sequencing enables the high-fidelity mapping of single-cell expression data from highly sequence-similar transposable elements to unique genomic loci by correcting errors fro...
doi.org
July 16, 2025 at 4:55 PM
Reposted by Mariela Cortés López
biorxivpreprint.bsky.social
A comparison of long-read single-cell transcriptomic approaches https://www.biorxiv.org/content/10.1101/2025.07.03.662955v1
July 6, 2025 at 7:30 AM
Reposted by Mariela Cortés López
davidaknowles.bsky.social
New work from the lab trying to wrap our heads around the massive complexity of the human transcriptome revealed by long-read RNA-seq! Fun collab with Gloria Sheynkman. www.biorxiv.org/content/10.1...
Perplexity as a Metric for Isoform Diversity in the Human Transcriptome
Long-read sequencing (LRS) has revealed a far greater diversity of RNA isoforms than earlier technologies, increasing the critical need to determine which, and how many, isoforms per gene are biologic...
www.biorxiv.org
July 2, 2025 at 11:46 PM
Reposted by Mariela Cortés López
natrevgenet.nature.com
Evolution of splicing model architectures go.nature.com/4eweliE
Figure from our recent Review: From computational models of the splicing code to regulatory mechanisms and therapeutic implications (free to read here: rdcu.be/dVNV4)
a, Early models built sequence motifs to describe the consensus sequences of individual core splicing elements, such as splice sites (SSs) and intronic and/or exonic enhancers and silencers. Statistical and machine-learning models were built to output the probability of a novel sequence acting as a core splicing element. The sequence logos shown for 5′SS and 3′SS were generated from Human hg38 RefSeq annotations (code available at https://www.github.com/ulelab/splicelogos). b, As our understanding of splicing mechanisms progressed, expert-selected features were extracted from sequences and used to train integrative models to predict splicing outcomes. c, With the advent of deep-learning, models could jointly learn features directly from raw sequence input. Although theoretically, sequence context could be as large as shown in part d, in practice smaller windows of up to 30 kb have been used. d, Supervised models with convolutional and transformer layers produce multimodal genome-wide data. These models use a much larger sequence context and can predict genome-wide data including RNA sequencing coverage, which can be further processed to evaluate splicing. e, By learning how to reconstruct partially masked genomic sequences across multiple species, self-supervised masked language models capture evolutionarily conserved sequence elements and their functional context in a very generic and flexible fashion. The informative numerical representations obtained by large language models can be used for splicing prediction tasks. Here 3′SS within different sequence contexts from multiple species are shown aligned for easier interpretation, but in practice sequences do not have to be aligned. Current masked language models with application to splicing use variable context windows from 1,000 to 1 million base pairs; however, it is currently unclear whether larger context windows confer better performance
July 2, 2025 at 10:21 AM
altspliced.bsky.social
Great day to share this op-ed we co-authored with other international postdocs, highlighting the struggle of doing science under an increasingly hostile political climate, while also fighting for fairer working conditions at WCM: medium.com/@alt_spliced...
International researchers are fighting for stability in troubled times
We are a group of international scholars at Weill Cornell Medicine (WCM) who moved to New York City to conduct cutting edge research that…
medium.com
June 19, 2025 at 10:34 PM
Reposted by Mariela Cortés López
nycrnasymposium.bsky.social
Save the Date: 2025 NYC RNA Symposium — Tuesday, October 21, 2025
more @ www.nycrnasymposium.com
Home | Nycrnasymposium
Register for the inaugural NYCRNASymposium. Come share your RNA research in NYC!
www.nycrnasymposium.com
May 20, 2025 at 3:31 PM
Reposted by Mariela Cortés López
natbiotech.nature.com
Treatment of acute myeloid leukemia models by targeting a cell surface RNA-binding protein - @raflynn5.bsky.social go.nature.com/3YbT1In
Treatment of acute myeloid leukemia models by targeting a cell surface RNA-binding protein - Nature Biotechnology
An RNA-binding protein on leukemia cells provides an effective target in mouse models.
go.nature.com
April 23, 2025 at 3:11 PM
Reposted by Mariela Cortés López
mafdawson.bsky.social
Why can a human tolerate a drug that globally inhibits transcription? Why do transcription inhibitors not cure cancer? Our first paper of 2025 may help explain (some) of this!

So incredibly proud of @tobiaswilliams.bsky.social & Ewa Michalak who led the work!

www.cell.com/molecular-ce...
mRNA export factors store nascent transcripts within nuclear speckles as an adaptive response to transient global inhibition of transcription
Transcription inhibitors also disrupt nuclear export. Here, Williams et al. reveal that mRNA export factors sense transcription inhibition and adapt by storing mature export-competent mRNA in nuclear speckles. This enables rapid release when transcription resumes and ensures retention of cellular identity and viability during a transient global transcription insult.
www.cell.com
January 2, 2025 at 8:03 PM
Reposted by Mariela Cortés López
Very proud to share this work just out in NAR: spearheaded by @jamieauxillos.bsky.social and Arnauld Stigliani: TLDR-seq, a method for 5’ to 3’ end long-read sequencing of capped RNAs regardless of 3’ end polyadenylation, based on the @nanoporetech.com platform. (1/4) tinyurl.com/3c2ksdmr
April 7, 2025 at 8:15 AM
Reposted by Mariela Cortés López
kvittingseerup.bsky.social
The Genetics research community has a problem. Most recent articles do not consider #splicing/isoforms.

Here, we analyze how important this opportunity gap is - and spoiler warning - we find it is essential for both analysis of common and rare variants

More info👇

www.medrxiv.org/content/10.1...
Beyond the Gene in Genetics: How Isoform-Resolved Analysis Empowers the Study of Both Common and Rare Genetic Variation
Genetics is rapidly deepening our understanding of human health and disease by investigating common and rare genetic variants and their influence on gene expression1,2. Alternative splicing is a molec...
www.medrxiv.org
April 2, 2025 at 7:45 AM
Reposted by Mariela Cortés López
uwmadisonrna.bsky.social
New work on human U2 snRNA variants (incl. mutations associated with cancer) from the Query lab!

www.biorxiv.org/content/10.1...
U2-2 snRNA Mutations Alter the Transcriptome
Intron removal from pre-mRNA is catalyzed by the spliceosome, which comprises 5 snRNPs containing small nuclear RNAs (snRNAs). U2 snRNA makes critical RNA-RNA and RNA-protein contacts throughout the s...
www.biorxiv.org
April 1, 2025 at 6:49 PM
Reposted by Mariela Cortés López
anaconesa.bsky.social
I am so happy to see this manuscript finally out!!! We review and discuss all analysis steps in long reads transcriptomics. Hope the community finds this useful! Hugo thanks to @carolinamonzo.bsky.social and @tianyuanliu.bsky.social for the huge work!!! @longtrec.bsky.social @hitseq.bsky.social
March 28, 2025 at 12:52 PM
Reposted by Mariela Cortés López
davidho.bsky.social
With the attacks on science and academia by the current administration, if those of us who have tenure don't speak up, it's really hard to continue justifying the tenure system based on academic freedom.
March 14, 2025 at 5:42 PM
altspliced.bsky.social
Love this!
February 26, 2025 at 4:17 PM
Reposted by Mariela Cortés López
mikefeigin.bsky.social
All those asking about a Stand Up For Science event in NYC, here you go!

www.eventbrite.com/e/stand-up-f...
Stand Up for Science 2025 - NYC
Stand up for science with us on March 7th, 2025, because science is for everyone! More info at www.standupforscience2025.org
www.eventbrite.com
February 26, 2025 at 2:41 AM
Reposted by Mariela Cortés López
pauletteoctopus.bsky.social
Still a bit more than a week left to apply! PhD opportunity in the Beusch lab. Please share to anyone interested in RNA biology 🧪 #RNAsky #RNAbiology
pauletteoctopus.bsky.social Irene Beusch @pauletteoctopus.bsky.social · Jan 29
Now official: We have another opening for a fully funded #PhDposition in the Beusch lab (www.beuschlab.org) at @uniwuerzburg.bsky.social! More details here: tinyurl.com/947xcw85 If you or someone you know is curious about #splicing please apply or contact me for more information! #RNAsky #RNAbiology
PhD-Beusch_202501_final.pdf
tinyurl.com
February 7, 2025 at 5:00 PM
Reposted by Mariela Cortés López
johnprensner.bsky.social
Looking to see how #RiboSeq can improve your cancer research?

Check out how we've been developing new methods to study #medulloblastoma and other forms of #childhoodcancer.

Out in @naturecomms.bsky.social now. Thanks to Jim Clauwaert and Gerben Menschaert as well!

www.nature.com/articles/s41...
Deep learning to decode sites of RNA translation in normal and cancerous tissues - Nature Communications
RNA translation is a core cell process that is deregulated in cancer. Here, the authors show that a machine learning approach, RiboTIE, can reconstruct RNA translation in cancer and non-cancer cells. ...
www.nature.com
February 2, 2025 at 8:01 PM
Reposted by Mariela Cortés López
leifludwig.bsky.social
Join us to connect with the vibrant #singlecell community.
📢Register for the #ISCO'25 Conference "Innovations in #SingleCell #OMICS" in Berlin!
🗓️ 12-13 May 2025
🎤 Fantastic Keynote and Invited Speakers
🫵🏿 Many slots for talks: submit your abstract
🔗http://isco-conference.eu
Please spread the word!
January 31, 2025 at 10:29 AM
Reposted by Mariela Cortés López
soniagr.bsky.social
New in @naturecomms.bsky.social: I'm thrilled to share with you our latest work that applies #srRNAseq to understand splicing accuracy across human introns, tissues and in the context of ageing and neurodegeneration www.nature.com/articles/s41...
Splicing accuracy varies across human introns, tissues, age and disease - Nature Communications
Inaccuracies in RNA splicing may play a significant role in aging and disease. Here, the authors present a comprehensive characterization of splicing accuracy across over 14,000 human samples, offerin...
www.nature.com
January 27, 2025 at 9:53 PM
altspliced.bsky.social
I am happy to share that today I got my NOA for the #NCI Early K99/R00! This will support our ongoing efforts to understand RNA splicing impact in cancer phenotypes using single cell multi-omics.
Some good news around all this chaos 💫
January 29, 2025 at 3:59 AM
Reposted by Mariela Cortés López
maggie-arriaga.bsky.social
What if one variant can cause splicing outliers transcriptome-wide? In our preprint, we show how examining transcriptome-wide patterns of splicing outliers can both diagnose individuals with rare spliceopathies and uncover novel disease-gene relationships! (www.medrxiv.org/content/10.1...)
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
RNA-sequencing has improved the diagnostic yield of individuals with rare diseases. Current analyses predominantly focus on identifying outliers in single genes that can be attributed to cis-acting va...
www.medrxiv.org
January 7, 2025 at 9:15 PM