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

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

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. 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:

Brb updating my LinkedIn to “Endorsed by Bioinformatics Royalty”

We’re happy to share our preprint on evidence yield from genome sequencing for the calibrated PP3/BP4 computational recommendations, where we find a median of 1 rare missense variant reaching PP3 “Strong” evidence per person in disease-associated genes. 1/ medrxiv.org/content/10.110…

cat is the most misused thing by programmers new to linux. I cringe every time someone uses it wrong in a bash script. Thread below with proper uses of cat only

Save the date! Have you heard the we are running a cancer bioinformatics symposium in June? Registration and abstract submission are opening soon! cancerbioinformatics.au

Do enough people know about the glory of scales::label_wrap???? (No)

EVERY child diagnosed with cancer in Australia now has access to precision medicine through our world-leading ZERO Childhood Cancer Program. @KidsCancerInst continues to push the boundaries of what's possible through research and offers real hope for a brighter future.