Patricia Sullivan
@PatSullivann
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PhD from @KidsCancerInst in Computational Biology 🖥🧬 Developing tools to identify #splicing variants. @AustAmFulbright recipient 2022.
Sydney, Australia
Joined May 2019
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
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RT @FranMartinezGr: New UCSC track release!!!! #RareDisease #Genetics #UCSC. New Splicing Impact super track for hg38 and hg19. This super….
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RT @hdashnow: I am excited to present v2!. A resource for tandem repeats associated with Mendelian disease. We have….
strchive.org
An archive of STRs associated with human diseases
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RT @LaufferMarlen: David Cheerie and I will present at the first @N1Collaborative annual meeting tomorrow! We will discuss the newly establ….
medrxiv.org
Of the around 7,000 known rare diseases worldwide, disease-modifying treatments are available for fewer than 5%, leaving millions of individuals without specialized therapeutic strategies. In recent...
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RT @Sumaiyalqbal: Published today @SpringerNature in @naturemethods . Genomics 2 Proteins portal @G2Pportal: a resource and discovery tool….
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Brb updating my LinkedIn to “Endorsed by Bioinformatics Royalty”
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants
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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. 🙏.
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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.
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SpliceVarDB welcomes submissions of published and unpublished experimentally validated variants, enabling continuous growth and refinement of this critical resource. We have an additional 47,000 variants being added, so keep an eye out for updates!
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Available online at SpliceVarDB offers easy access to high-quality data on splice-altering variants, complete with in silico predictions, visualisations, and validation metrics.
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We’ve compiled 50,000 variants functionally demonstrated to affect (or not affect) splicing. These variants cover over 8,000 genes, covering 58% of OMIM genes and 68% of @ClinGenResource genes with established Gene-Disease Validity. 🧬.
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It’s estimated that up to 1/3 of all disease-causing variants disrupt splicing. Predicting these disruptions from DNA alone is tough, making RNA-based validation crucial — but resource-intensive. 🥼💸.
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We’re thrilled to announce the publication of SpliceVarDB: A comprehensive database of experimentally validated human splicing variants in @AJHGNews 🧬.📖 #splicing #GeneChat.
cell.com
Predicting whether a genetic variant will affect mRNA splicing is challenging. With SpliceVarDB we have consolidated and harmonized experimental splicing evidence for over 50,000 genetic variants...
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RT @hdashnow: I am currently recruiting a computational postdoc in my lab at CU The candidate would develop and use….
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RT @SL_Stenton: We’re happy to share our preprint on evidence yield from genome sequencing for the calibrated PP3/BP4 computational recomme….
medrxiv.org
Purpose To investigate the number of rare missense variants observed in human genome sequences by ACMG/AMP PP3/BP4 evidence strength, following the calibrated PP3/BP4 computational recommendations....
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RT @ProgrammerDude: cat is the most misused thing by programmers new to linux. I cringe every time someone uses it wrong in a bash script.….
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RT @AliciaOshlack: Save the date! Have you heard the we are running a cancer bioinformatics symposium in June? Registration and abstract su….
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RT @KidsCancerInst: EVERY child diagnosed with cancer in Australia now has access to precision medicine through our world-leading ZERO Chil….
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