Jonathan LoTempio

@realjlo.bsky.social

Fellow in the bioethics of human data at Penn. Bioinformatics, ethics, policy, and science. Interested in making pangenomes and how human data flows.

OPM is planning to fire all employees on probation (less than one year of employment). Agencies have until noon on Wednesday to submit a list of probationary employees to the OPM and indicate whether they wish to retain them—though it has been stated that this will not make a difference.

🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338 Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬

GREGoR: Accelerating Genomics for Rare Diseases

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA seq...

arxiv.org