Delighted to see our #AcuteCareGenomics posters up #eshg2022 🤗Starting with Mark Cleghorn: first report of homozygous CYP2C9 variant causing profound warfarin sensitivity and highlighting the value of #genomic data beyond diagnosis!
December 20, 2024 at 2:56 PM
Delighted to see our #AcuteCareGenomics posters up #eshg2022 🤗Starting with Mark Cleghorn: first report of homozygous CYP2C9 variant causing profound warfarin sensitivity and highlighting the value of #genomic data beyond diagnosis!
December 20, 2024 at 3:01 PM
Next up: @annaklefevre with first report of PYROXD2 variants in mitochondrial disease! We have N=1 but beautiful functional data: looking for more patients! 🧬#AcuteCareGenomics #eshg2022
December 20, 2024 at 2:56 PM
Next up: @annaklefevre with first report of PYROXD2 variants in mitochondrial disease! We have N=1 but beautiful functional data: looking for more patients! 🧬#AcuteCareGenomics #eshg2022
#eshg2022: great talk by Brian Chung 🇭🇰about the direct and indirect costs of #raredisease including ‘catastrophic health expenditure’ for families. Informal care and loss of productivity are large contributors
December 20, 2024 at 2:51 PM
#eshg2022: great talk by Brian Chung 🇭🇰about the direct and indirect costs of #raredisease including ‘catastrophic health expenditure’ for families. Informal care and loss of productivity are large contributors
@ClaraGaff #ESHG2022 talking now about the #AcuteCareGenomics education program: a tailored, modular approach to increase capability and confidence with rapid #genomics across multiple professional groups @AusGenomics
December 20, 2024 at 2:51 PM
@ClaraGaff #ESHG2022 talking now about the #AcuteCareGenomics education program: a tailored, modular approach to increase capability and confidence with rapid #genomics across multiple professional groups @AusGenomics
Fabulous talk @NicholaGarde #ESHG2022 about how to engage with patients with rare conditions: the importance of empathy and taking care with language
December 20, 2024 at 2:46 PM
Fabulous talk @NicholaGarde #ESHG2022 about how to engage with patients with rare conditions: the importance of empathy and taking care with language
More #AcuteCareGenomics posters: @KatieArkell10 #ESHG2022 HP focus groups to explore impact of rapid WGS results on clinical decision-making highlighting practical and ethical issues @AusGenomics @BERG_MCRI
December 20, 2024 at 2:46 PM
More #AcuteCareGenomics posters: @KatieArkell10 #ESHG2022 HP focus groups to explore impact of rapid WGS results on clinical decision-making highlighting practical and ethical issues @AusGenomics @BERG_MCRI
Next in F2 #ESHG2022 @GeneticsMatt @MCRI_for_kids 🇦🇺 excellent talk on somatic variants in infantile spasms with brain malformations: cohort of 59 patients, targeted panel (TS) or 400x WES on resected tissue, 76.2% diagnostic yield, TS and MTOR genes predominate
December 20, 2024 at 2:36 PM
Next in F2 #ESHG2022 @GeneticsMatt @MCRI_for_kids 🇦🇺 excellent talk on somatic variants in infantile spasms with brain malformations: cohort of 59 patients, targeted panel (TS) or 400x WES on resected tissue, 76.2% diagnostic yield, TS and MTOR genes predominate
Now on in Hall D #ESHG2022 @sandrasoojinlee systemic issues relating to history, language and social processes need to be considered to fully address issues of equity
December 20, 2024 at 2:36 PM
Now on in Hall D #ESHG2022 @sandrasoojinlee systemic issues relating to history, language and social processes need to be considered to fully address issues of equity
@jordirambla giving an overview of the work of @GA4GH to develop standards and tools 🛠 🧰 to enable responsible data sharing globally 🧬🌏 #ESHG2022
December 20, 2024 at 2:31 PM
@jordirambla giving an overview of the work of @GA4GH to develop standards and tools 🛠 🧰 to enable responsible data sharing globally 🧬🌏 #ESHG2022
Back in F1 for novel 🧠 genes starting with @SaraBaldassari4 @ParisBrainInst presenting on MTOR pathway gene PIK3C2B and focal epilepsy #ESHG2022
December 20, 2024 at 2:26 PM
Back in F1 for novel 🧠 genes starting with @SaraBaldassari4 @ParisBrainInst presenting on MTOR pathway gene PIK3C2B and focal epilepsy #ESHG2022
@lisapavinato: do novo variants in CAPRIN1 associated with NDD, supported by elegant functional work in organoids and episignatures #ESHG2022
December 20, 2024 at 2:26 PM
@lisapavinato: do novo variants in CAPRIN1 associated with NDD, supported by elegant functional work in organoids and episignatures #ESHG2022
Thank you @eshgsociety for a brilliant conference #ESHG2022 in beautiful Vienna! Excellent science, plenty of inspiration and so good to catch up with so many friends and colleagues!
December 20, 2024 at 2:21 PM
Thank you @eshgsociety for a brilliant conference #ESHG2022 in beautiful Vienna! Excellent science, plenty of inspiration and so good to catch up with so many friends and colleagues!
my last unpublished thesis chapter just out.
i finally got to share this cursed project 😭🥹
Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count; also as a poster at #ESHG2022
@AJStatGenet
bit.ly/3v3808T
i finally got to share this cursed project 😭🥹
Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count; also as a poster at #ESHG2022
@AJStatGenet
bit.ly/3v3808T
Frontiers | Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count
Eosinophils play important roles in the release of cytokine mediators in response to inflammation. Many associations between common genetic variants and eosi...
bit.ly
December 17, 2024 at 9:08 AM
my last unpublished thesis chapter just out.
i finally got to share this cursed project 😭🥹
Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count; also as a poster at #ESHG2022
@AJStatGenet
bit.ly/3v3808T
i finally got to share this cursed project 😭🥹
Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count; also as a poster at #ESHG2022
@AJStatGenet
bit.ly/3v3808T
