Login / Signup

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Song SunJochen WeileMarta VerbyYingzhou WuYang WangAtina G CoteIosifina FotiadouJulia KitaygorodskyMarc VidalJasper RinePavel JešinaViktor KožichFrederick P Roth
Published in: Genome medicine (2020)
We demonstrate that highly multiplexed cell-based assays can yield proactive maps of variant function and patient response to therapy, even for rare variants not previously seen in the clinic.
Keyphrases
  • case report
  • single cell
  • primary care
  • high throughput
  • copy number
  • stem cells
  • dna methylation
  • mesenchymal stem cells
  • genome wide