Massively parallel base editing to map variant effects in human hematopoiesis
Martin-Rufino J, Castano N, Pang M, Grody E, Joubran S, Caulier A, Wahlster L, Li T, Qiu X, Riera-Escandell A, Newby G, Al'Khafaji A, Chaudhary S, Black S, Weng C, Munson G, Liu D, Wlodarski M, Sims K, Oakley J, Fasano R, Xavier R, Lander E, Klein D, Sankaran V. Massively parallel base editing to map variant effects in human hematopoiesis. Cell 2023, 186: 2456-2474.e24. PMID: 37137305, PMCID: PMC10225359, DOI: 10.1016/j.cell.2023.03.035.Peer-Reviewed Original ResearchConceptsHuman hematopoiesisVariant effectsNon-coding variantsDisease-associated variantsSingle-cell genotypingHuman hematopoietic stemFetal hemoglobin expressionHigh-throughput variantGenome engineeringSequencing readoutHematopoietic differentiationFunctional screenHemoglobin expressionDifferentiation stateDefines mechanismsHematopoietic stemPrimary cellsGenetic variantsProgenitor cellsSpecific mutationsDiverse diseasesHuman physiologyRich phenotypingHematopoiesisImmunotherapy approaches