Genetic & Genomic MedicinemedRxivPreprint
Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis
Emil E. Vorsteveld, Caspar I. van der Made, Sanne P. Smeekens…·Alexander Hoischen
This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.
2 citations