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We are excited to announce that Dr Benjamin Nash from the Children's Hospital at Westmead Sydney Children's Hospitals Network has been named as the recipient of the 2023 PacBio ANZ Revio HiFi SMRT Grant! Read more via our website NEWS AND MEDIA. #AGRF #Genomics #Revio #LongReadSeq Millennium Science

Thousands of patients from our Westmead hospital have contributed to a worldwide understanding of paediatric #cancer through Biospecimen #Research Services. This #ChildhoodCancerAwarenessMonth, we're celebrating its 25th anniversary & all it has achieved.schn.health.nsw.gov.au/news/articles/…

Congratulations to our PhD student, Ayse B Ercan, on her newest paper, "The Clinical and Biological Landscape of Constitutional Mismatch Repair Deficiency: An IRRDC Study"👏🎉View the preprint here: ssrn.com/abstract=45552…

Productive meetings at Parliament today advocating for federal #DIPG #DMG RESEARCH funding to help achieve >2-yrs OS. An unacceptable statistic, but >2x better than now; biggest unmet clinical need! Tx for your support Australian DIPG Families Australian Labor Mark Butler MP we can do this!!

The world’s top melanoma pathologist has brain cancer. Can he save himself? - The Sydney Morning Herald apple.news/A1AANQxwgSAGH8…

Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers pubmed.ncbi.nlm.nih.gov/37610374/

Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy pubmed.ncbi.nlm.nih.gov/37802042/

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad_v4 #ASHG23 (1/11)

Big shoutout to all my amazing collaborators 🙌🏻: Kartik Bhatia, David Lord, Dianne Sylvester, Geoff McCowage, Caroline Bateman , Bhavna Padhye, Mark Dexter, and Jonathan Karpelowsky. #CCRU Kids Research Westmead Kids teamwork makes the dream work

Beyond 'winning at all costs': shifting the narrative on female sports participation croakey.org/beyond-winning… #publichealth

We are delighted to publish guidance for applying segregation (PP1 & BS4) and phenotype specificity (PP4) evidence to variant classification - both important approaches to implicate the variant's locus in disease. Special thanks to Les and the whole team! authors.elsevier.com/sd/article/S00…

Oceanian ancestries are among the most under-represented in reference databases and genomic research. Which is a shame, because to understand if this variant TRULY causes a relatively rare disease, we really needed to know how often it occurs in these populations /6

TFW someone posts your first author manuscript and all you can think is what’s missing from this picture?

Exciting news for pediatric healthcare professionals! 🌟 Check out the latest clinical updates and surveillance recommendations for DNA replication-repair deficiency syndromes. Congratulations IRRDC Co-Lead, Dr. Anirban Das🧬tinyurl.com/33zxsm34

We have a new review article published in #DNARepair journal. Everything you ever wanted to know about FANCM, and its role in processing replication forks, R-loops, ICL traverse, and recombination. Written by Lara Abbouche and Rohan Bythell-Douglas and... me! authors.elsevier.com/sd/article/S15…

Are you looking for a PhD project in #childhood #cancer and #proteomics to start in 2025? At CMRI #ProCan and University of Sydney. With myself and paediatric oncologist Bhavna Padhye. Please RT. #datascience #bioinformatics #biology sydney.edu.au/research/oppor….

Finally able to share our work “Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition” in full (well at least pt1). It is out as a First Edition preprint in Blood ashpublications.org/blood/article/…

Phenotypes associated with ERG germline mutations will continue to grow. Anything vascular and developmental. Keep an eye out for cnLOH and low mutant allele freq at the ERG locus. We have functional assays for VUSs so pls contact us if you think you have something interesting.

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

6/ We treated 11 patients on trial, 9 of whom experienced neurological improvements after IV CAR T cell therapy and went on to receive further intracranial doses of CAR T cells. Seven of the 11 patients showed overall shrinkage of their tumors, 4 of whom had overall reductions in