In a dataset of >5800 retinal images, InceptionV3 achieved 98% accuracy and an AUC (area under the curve) of 0.98 for anemia detection, with a mean absolute error (MAE) of 0.58 g/dL for hemoglobin (Hb) estimation, validated in an external cohort [16]. The gene discussed is GSTM1; the disease is anemia (phenotype).