Patricia Sullivan

Hard launching my new title: Dr Patricia Sullivan 🎓🥳 After years of research, late-night writing sessions, and more splice-altering variants than I can count, I’m officially #PhDone

New UCSC track release!!!! #RareDisease #Genetics #UCSC New Splicing Impact super track for hg38 and hg19. This super track includes AbSplice Scores, SpliceAI, and, for hg38, the new SpliceVarDB track. #030525" target="_blank" rel="nofollow noopener">genome.ucsc.edu/goldenPath/new…

I am excited to present STRchive.org v2! A resource for tandem repeats associated with Mendelian disease. We have resigned the website, added new loci, streamlined our data for easier reuse, added more detailed citations, presented population frequency data and more!

David Cheerie and I will present at the first @N1Collaborative annual meeting tomorrow! We will discuss the newly established N1C VARIANT (Variant Assessments towards Eligibility for Antisense Oligonucleotide Treatment) Guidelines. medrxiv.org/content/10.110…

Published today @SpringerNature in @naturemethods Genomics 2 Proteins portal @G2Pportal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures nature.com/articles/s4159… /thread

How to choose the right chart for analysis:

@GeneticsSociety @markjcowley @AJHGNews And it all began on the big stage at #ASHG22 with my first presentation on SpliceVarDB! Grateful for the continued support @GeneticsSociety 🙏🧬

Using SpliceVarDB, authors @PatSullivann & @markjcowley @AJHGNews' latest article have consolidated and harmonized experimental splicing evidence for over 50,000 genetic variants from over 8,000 genes, half of which affect noncanonical splice sites: cell.com/ajhg/fulltext/… #ASHG

Brb updating my LinkedIn to “Endorsed by Bioinformatics Royalty”

@MariosGeorgakis @AJHGNews “Important effort” — Stop, I’m blushing! Thank you for sharing 🙌 You beat me to posting my own paper, but I’ll drop the summary tweet here.

1/3 of disease-causing variants are estimated to alter gene splicing🧬 👉Important effort to sum published data of experimental splicing validation 👉50,000 variants in 8,000 genes 📊Database: SpliceVarDB compbio.ccia.org.au/splicevardb/ 📰Paper: cell.com/ajhg/fulltext/… @AJHGNews

@FranMartinezGr Thank you for the support!! 🙏 I’ve just posted our SpliceVarDB tweetorial for those of you who want a quick summary.

SpliceVarDB: A comprehensive database of experimentally validated human splicing variants #RareDisease #Genetics #splicing cell.com/ajhg/fulltext/…

This work has been made possible by @Luminesce_All, @CancerAustralia, @MyRoomCCC, and @healthgovau. 👏 This is the 2nd publication from my splicing PhD (awarded this week!), which was generously supported by @dpetre, @FulbrightAUS, and @thekca. 🙏

We’re excited to officially launch SpliceVarDB to the human #genetics community, where it will support variant curation and the development of in silico tools. 🚀 A big thank you to my coauthors @markjcowley, @MarkPinese, Alan, Julian, and the CompBio team at @KidsCancerInst.

We’re thrilled to announce the publication of SpliceVarDB: A comprehensive database of experimentally validated human splicing variants in @AJHGNews 🧬 📖 cell.com/ajhg/fulltext/… #splicing #GeneChat

@vaym88 Thank you! It has been a big week 🥳

@PatSullivann Congrats! And also on the SpliceVarDb paper!

Hard launching my new title: Dr Patricia Sullivan 🎓🥳 After years of research, late-night writing sessions, and more splice-altering variants than I can count, I’m officially #PhDone

@joanneberghout @AJHGNews @markjcowley We just made the filters always visible to remove the possibility of this problem. Try now! :)

@AJHGNews @markjcowley Nice paper! I'm having trouble getting the SpliceVarDB website to show me anything but COL4A5 though. I want more :)

📢New from @markjcowley & co 📰SpliceVarDB: A comprehensive database of experimentally validated human splicing variants cell.com/ajhg/fulltext/…

I am currently recruiting a computational postdoc in my lab at CU dashnowlab.org The candidate would develop and use computational genomics methods to understand the genetic underpinnings of rare diseases and increase diagnoses. Pay starts at $70k for recent PhD grads