2nd year @GeisingerCwlth student Tyler Singer presenting on “Characterization of MyCode Participants with Pathogenic or Likely Pathogenic Variants in ENG, ACVRL1, or SMAD4 Associated with Hereditary Hemorrhagic Telangiectasia” from MyCode @GeisingerRsrch#ACMGMtg23
Sharing our work demonstrating that screening for P/LP variants associated with endocrine tumor syndromes (MEN1, MEN2, VHL, PCC/PGL) in MyCode enabled id of individuals at risk, led to risk management, and facilitated relevant dx #populationscreening#genechat@GeisingerRsrch
Excited to have shared our analysis of ACMG SF genes in 144K Geisinger MyCode participants at #ACMGMtg22. Detection rate increased by 35% between SFv2.0 to v3.0 (2.29% to 3.09%), PALB2: 8% of all cancer results. TTN: 26% of all cardio results (only A-band TTNtv). @GeisingerRsrch