Which #MDSsm patients are most likely to have UBA1 mutations associated with #VEXAS syndrome?
Our study now out in @BloodJournal: Molecular and clinical presentation of UBA1-mutated MDS by @PapaemmanuilLab, @Elsa2Bernard, @MariaCreignou, David Beck, MDS IWG-PM & @MDSFoundation
Excited to present today with @DylanDomenico our workflow on interpretable classification of genomic variants in whole genome sequencing from archived tissue. If you're in Hawaii, come check out our work at the @icml_compbio
Paper Online: https://t.co/XZ6vdacLwx
#ICML2023
Incorporating gene mutations with standard parameters for #MDS stratification in an algorithm for routine practice. That is the #IPSSM, an international study from the #IWG, led by @PapaemmanuilLab, supported by @MDSFoundation, and today in @NEJMEvidence https://t.co/A3YqxqkKHz
Could an experimental approach to genetic testing in children and young adults with cancer match them with better treatment options? Drs. Andrew Kung and @PapaemmanuilLab, whose findings published in @Nature, think so. https://t.co/9hWy43Mpye
Grateful for being part of a team with the vision, resilience & commitment to bring a state of the art research tool into clinical readiness @gundem_gunes, M. Levine, @DylanDomenico, N.Shukla, @jsmedmar @juanesarango A.Kung #MSKKids#PTMP https://t.co/IoYWPE3t47