Whole exome sequencing (WES) data from 20 patients with suspicious Inborn errors of Immunity (IEI) manifestation

Whole exome sequencing (WES) data from 20 patients with suspicious Inborn errors of Immunity (IEI) manifestation. All patients were sampled South east of Brazil (Rio de Janeiro state) in the public Unified Health System (Sistema Unico de Saude or SUS).We make available the genomic data generated by WES of undiagnosed Brazilian IEI-patients aiming to improve the genetic diagnosis of monogenic disorders, variant prioritization and classification strategies, and facilitating the access to Brazilians massively parallel sequencing data. WES effectiveness revealed that 80% of sequencing reads were achieved in the quality control steps. On average, 90% of exonic bases were covered by more than 30 reads. The variant filtering approach identifies a total of 82,218 SNVs and INDELs during variant calling with a mean of 20,274 variants per sample. We identified 114 (0.14%) rare variants classified as pathogenic or likely pathogenic, according to ACMG guidelines, across the 20 patients.