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 RothPublished 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.