Sharing our team's latest works on TP53 gene variants that alter mRNA splicing!
Explaining risks and improving genetic testing for the most serious of cancer gene variants - Scimex https://t.co/bafhiSrzev
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset: The American Journal of Human Genetics https://t.co/lpHPSkVUgv
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel: The American Journal of Human Genetics https://t.co/MmANVn179Y
Li Fraumeni Syndrome = increased #cancer risk
Now new #research led by our own Dr Cristina Fortuno & @AmandaSpurdle with Prof Paul James from @PeterMacCC could help detect & manage cancers earlier in people with the condition.
Read more https://t.co/N0lcfj7Dkf
@nhmrc@NBCFAus
Happy to share our new article in Human Molecular Genetics by Cristina Fortuno: "Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines". @NeuroGeneticsCy https://t.co/2Odtdies2O
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Ambry is proud to partner with researchers from around the world. We connected with Cristina Fortuno and Amanda Spurdle on their recent work to clarify the gene-disease relationships between CHEK2 and TP53. For more information, check out: https://t.co/5zJpygx8xj #BreastCancer
Interested in pursuing a PhD in cancer genomics? We're @TeamNicWaddell looking for students (National & International) with bioinformatics or computer science skills to work on this project: https://t.co/kG0hC5BbVG
scholarship details: https://t.co/RYdsnkPZ9t !!
#PhDposition
I could be biased but I think @AmandaSpurdle @QIMRBerghofer is the best at explaining #ACMG variant classification for genes like #BRCA1, and in a way that is understandable, digestible and fun @Genetics2023#ICG2023
I'm hiring! I have a 2-year funded #endometrial#cancer project for a postdoc with #organoid culture experience. Based in Brisbane with views like this, how can you say no? HMU if you have Qs about the role. Applications close 6th June https://t.co/e4UKipBK4s
In the latest edition of Inside @HGGAdvances, hear @daffodil_canson, PhD, discuss her paper, "Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes": https://t.co/3WIp25UcnC
In a new @HGGAdvances article, researchers developed a prioritization workflow & identified potentially causal endometrial cancer GWAS risk variants with plausible biological mechanisms.
Learn more: https://t.co/fjKFPeS2y3
New! @daffodil_canson et al. develop a workflow to integrate splicing prediction analysis w/GWAS data. Their analysis of endometrial cancer identifies two candidate risk variants predicted to alter NF1 and SKAP1 splicing. #OA
https://t.co/g33meCNrWE