Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA), CONICET - Partner Institute of the Max Planck Society, Buenos Aires, Argentina.
Consultorio de Neurogenética, Centro Universitario de Neurología y División Neurología, Hospital J.M. Ramos Mejia, Facultad de Medicina, UBA, Buenos Aires, Argentina.
BMC Bioinformatics. 2018 Jan 27;19(1):25. doi: 10.1186/s12859-018-2027-3.
GenIO is a novel web-server, designed to assist clinical genomics researchers and medical doctors in the diagnostic process of rare genetic diseases. The tool identifies the most probable variants causing a rare disease, using the genomic and clinical information provided by a medical practitioner. Variants identified in a whole-genome, whole-exome or target sequencing studies are annotated, classified and filtered by clinical significance. Candidate genes associated with the patient's symptoms, suspected disease and complementary findings are identified to obtain a small manageable number of the most probable recessive and dominant candidate gene variants associated with the rare disease case. Additionally, following the American College of Medical Genetics and Genomics and the Association of Molecular Pathology (ACMG-AMP) guidelines and recommendations, all potentially pathogenic variants that might be contributing to disease and secondary findings are identified.
A retrospective study was performed on 40 patients with a diagnostic rate of 40%. All the known genes that were previously considered as disease causing were correctly identified in the final inherit model output lists. In previously undiagnosed cases, we had no additional yield.
This unique, intuitive and user-friendly tool to assists medical doctors in the clinical genomics diagnostic process is openly available at https://bioinformatics.ibioba-mpsp-conicet.gov.ar/GenIO/ .
GenIO 是一个新颖的网络服务器，旨在协助临床基因组学研究人员和医生进行罕见遗传病的诊断过程。该工具使用医疗从业者提供的基因组和临床信息，确定最可能导致罕见疾病的变异。对全基因组、全外显子或靶向测序研究中鉴定的变异进行注释、分类和临床意义过滤。鉴定与患者症状、疑似疾病和补充发现相关的候选基因，以获得与罕见疾病病例相关的最可能隐性和显性候选基因变异的数量较少且易于管理。此外，根据美国医学遗传学和基因组学学院以及分子病理学协会 (ACMG-AMP) 的指南和建议，确定所有可能导致疾病和次要发现的潜在致病性变异。
对 40 名具有 40%诊断率的患者进行了回顾性研究。在最终的遗传模型输出列表中，正确识别了先前被认为是致病的所有已知基因。在以前未确诊的病例中，我们没有发现其他结果。
这个独特、直观和用户友好的工具可协助医生进行临床基因组学诊断过程，可在 https://bioinformatics.ibioba-mpsp-conicet.gov.ar/GenIO/ 免费获得。
