A total of 366 carriers of target diseases were identified, yielding a carrier rate of 50.00% (366/732). A cumulative total of 508 pathogenic/likely pathogenic (P/LP) variants were detected, with an a

DataCite Commons2025-08-11 更新50

Additional file 1 of The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases

遗传病筛查

基因测序

Additional file 1. Diseases and genes included in the carrier screening.

DataCite Commons2024-08-14 更新100

Replication Data for: Frequency and Predictors of Cascade Carrier Screening Among at Risk Family Members of Sickle Cell Disease and Haemophilia in Nairobi, Kenya

遗传病筛查

血液疾病

Dataset of Haemophilia and sickle cell

DataONE2025-10-27 更新60