Maggie Arriaga
@maggie-arriaga.bsky.social
Genetics PhD Candidate &
NSF GRFP Fellow @StanfordMed
BA @Kenyon College
Interested in all things splicing and rare disease!
NSF GRFP Fellow @StanfordMed
BA @Kenyon College
Interested in all things splicing and rare disease!
Reposted by Maggie Arriaga
Thank you to all our members and collaborators for an inspiring and productive @gregor-research.bsky.social meeting last week in San Diego! ☀️🧬
#RareDisease #Research
#RareDisease #Research
September 19, 2025 at 9:15 PM
Thank you to all our members and collaborators for an inspiring and productive @gregor-research.bsky.social meeting last week in San Diego! ☀️🧬
#RareDisease #Research
#RareDisease #Research
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
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...)
Reposted by Maggie Arriaga
We've created a Starter Pack with GREGoR Cosortium Members: go.bsky.app/KW4m3zR
Let us know if you're a part of GREGoR and would like to be added!
Let us know if you're a part of GREGoR and would like to be added!
December 12, 2024 at 1:08 AM
We've created a Starter Pack with GREGoR Cosortium Members: go.bsky.app/KW4m3zR
Let us know if you're a part of GREGoR and would like to be added!
Let us know if you're a part of GREGoR and would like to be added!
Reposted by Maggie Arriaga
Congratulations to my mentee Maggie Maurer, an ASHG Trainee Research Excellence Pre-Doctoral Winner. She
discovered a new disease gene in her rotation project last year! The critical method for this project was shared with us by collaborator Vijay Ganesh and clinical work was done by Rodrigo Mendez.
discovered a new disease gene in her rotation project last year! The critical method for this project was shared with us by collaborator Vijay Ganesh and clinical work was done by Rodrigo Mendez.
November 13, 2024 at 3:51 AM
Congratulations to my mentee Maggie Maurer, an ASHG Trainee Research Excellence Pre-Doctoral Winner. She
discovered a new disease gene in her rotation project last year! The critical method for this project was shared with us by collaborator Vijay Ganesh and clinical work was done by Rodrigo Mendez.
discovered a new disease gene in her rotation project last year! The critical method for this project was shared with us by collaborator Vijay Ganesh and clinical work was done by Rodrigo Mendez.
Reposted by Maggie Arriaga
🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338
Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬
Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬
GREGoR: Accelerating Genomics for Rare Diseases
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA seq...
arxiv.org
December 20, 2024 at 1:49 AM
🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338
Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬
Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬