Data table 2 - Overview of the sequencing metrics

Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of Brazilian patients' suspicion of IEI without a genetic diagnosis. We foresee a broad use of this dataset by the scientific community in order to provide a more accurate diagnosis of IEI disorders.Data description: Twenty singleton unrelated patients treated at four different hospitals in the state of Rio de Janeiro, Brazil were enrolled in our study. Half of the patients were male with mean ages of 9±3, while females were 12±10 years old. The WES was performed in the Illumina NextSeq platform with at least 90% of sequenced bases with a minimum of 30 reads depth. Each sample had an average of 20,274 variants, comprising 116 classified as rare pathogenic or likely pathogenic according to ACMG guidelines. The genotype-phenotype association was impaired by the lack of detailed clinical and laboratory information, besides the unavailability of molecular and functional studies which, comprise the limitations of this study. Overall, the access to clinical exome sequencing data is limited, challenging exploratory analyses and the understanding of genetic mechanisms underlying disorders. Therefore, by making these data available, we aim to increase the number of WES data from Brazilian samples despite contributing to the study of monogenic IEI-disorders. <br>

研究目标：原发性免疫缺陷病（Inborn error of immunity, IEI）是一类涵盖范围广泛的遗传性免疫失调疾病，诸多临床表现存在重叠，给临床诊断带来极大挑战。识别致病变异是确诊原发性免疫缺陷病的金标准方法。提升这类疾病相关临床基因组数据的可及性，是罕见遗传病研究领域的一项重要进展。本研究旨在公开一批疑似原发性免疫缺陷病但尚未获得遗传学确诊的巴西患者的全外显子组测序（whole-exome sequencing, WES）数据，期望本数据集能够被科研学界广泛应用，助力原发性免疫缺陷病的精准诊断。
数据概况：本研究共纳入20名无亲缘关系的散发病例患者，均在巴西里约热内卢州的四家不同医院接受诊疗。其中男性患者占半数，平均年龄为9±3岁；女性患者平均年龄为12±10岁。本研究采用Illumina NextSeq测序平台开展全外显子组测序，至少90%的测序碱基的测序深度不低于30×。每份样本平均检出20274个变异位点，其中依据美国医学遗传学与基因组学学会（American College of Medical Genetics and Genomics, ACMG）指南判定为罕见致病或疑似致病变异的位点共计116个。由于缺乏详细的临床与实验室检查信息，且无法开展分子及功能验证实验，本研究的基因型-表型关联分析受到限制，这也是本研究存在的局限性。总体而言，临床外显子组测序数据的可及性较为有限，这给探索性分析及疾病潜在遗传机制的解析带来了挑战。因此，通过公开这批数据，我们期望能够扩充巴西人群来源的全外显子组测序数据集规模，同时助力单基因原发性免疫缺陷病的相关研究。