Top Tweets for #SGCSS17
Finishing #SGCSS17 with discussions about translation and implementation of #genomics into @NSWHealth: education, economics and evidence-building. We're exploring opportunities in new funding models, developing partnerships & creating an environment for innovation and translation
Our @markjcowley describing the targeted #genome sequencing approach and analysis pipeline for the Molecular Screening and Therapeutics (MoST) clinical trials: reporting integrated SNVs, INDELs and CNVs from a targeted gene sequencing panel #SGCSS17
Prof Sally Dunwoodie from @VictorChangInst talking through @NSWHealth #genomics collaborative grant work identifying #genetic causes of congenital heart disease. A 'fishing trip' for monogenic causes with #WGS found additional actionable SNVs and identified CNVs #SGCSS17.
.@azankl updates #SGCSS17 on the @westmeadkids @NSWHealth collaborative grant project on the #genomic landscape of genetic disorders of the skeleton
.@NSWHealth #genomics collaborative grant provided #WGS for people with epilepsy that uncovered heritable X-linked and autosomal recessive SNVs and CNVs (smaller than would be seen in chromosomal microarrays) with immediate impacts for families: clinical or personal #SGCSS17
Dr Jan Fullerton from @neuraustralia talking at #SGCSS17 outlining a newly funded research project looking at genetic contributors, clinical course and pharmacogenomics of biopolar disorder using data linkage in NSW @SaxInstitute https://t.co/WKJJAMkFMn
Dr @TonyCPenna from @NSWHealth Office of Health and Medical Research reflecting on many established collaborations, projects and advancements from the Sydney #Genomics Collaborative, begun in 2014 #SGCSS17 and introducing the final NSW genomics collaborative grantholder #SGCSS17
The @NSWHealth #genomic collaborative grant presented by Prof Graham Mann #SGCSS17 builds on #WGS work in major melanoma subtypes by Hayward etc al 2017 in @nature https://t.co/0HMfEaVVTv
Prof Robyn Jamieson @CMRI_AUS emphasising at #SGCSS17 that whole #genome sequencing #WGS enabled by @NSWHealth allows for exploration of regulatory and intronic sequences and enables examination of structural variants
Prof Robyn Jamieson @CMRI_AUS on blinding eye disease: diagnoses and therapies using genomic medicine. #Genomic diagnostic detection shifted to up to 50-70% with high clinical value for @NSWHealth patient participants #SGCSS17
Our @KaplanWarren at #SGCSS17 on the variant atlas platform for cohort genomic analysis powering Sydney Genomics Collaborative #MGRB @NSWHealth and soon @AusGenomics. More info on the platform https://t.co/lNcZK9Sz42
The first #SGCSS17 session is on the Medical Genome Reference Bank at https://t.co/abCvlDROOD with @ProfDMThomas, @PaulLacaze and Warren Kaplan focused on genomics in healthy ageing, the #MGRB genomic analysis platform, and pathogenic variants in the healthy elderly.
The Sydney #Genomics Collaborative Scientific Symposium #SGCSS17 has begun @GarvanInstitute. @MarcelDinger opens the proceedings with an overview of collaborative genomics activities across NSW that have arisen from or complement the leading investment made by @NSWHealth
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