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.

本数据集包含20例疑似原发性免疫缺陷病（Inborn Errors of Immunity, IEI）表型患者的全外显子组测序（Whole Exome Sequencing, WES）数据。所有受试者均在巴西东南部里约热内卢州的公共统一健康系统（Sistema Unico de Saude，简称SUS）中完成采样。本数据集公开未确诊的巴西IEI患者的WES基因组数据，旨在优化单基因遗传病的基因诊断、变异优先级判定与分类策略，并推动巴西人群大规模平行测序数据的开放共享。经WES质控流程验证，80%的测序读段符合质控标准；平均而言，90%的外显子组碱基覆盖深度≥30×。变异检出阶段经过滤流程后，共鉴定到82218个单核苷酸变异（Single Nucleotide Variants, SNVs）与插入缺失变异（Insertions and Deletions, INDELs），单样本平均变异数为20274个。参照美国医学遗传学与基因组学学会（American College of Medical Genetics and Genomics, ACMG）指南，在20例患者中共鉴定出114个（占比0.14%）致病性或可能致病性罕见变异。