AEGIS™基因智能平台AEGIS™ GENOMIC INTELLIGENCE PLATFORM

AEGIS™基因智能平台是一套基于人工智能和医疗大数据的数字化平台,由计算机、生物信息、临床医学、遗传学专家组成的开发团队倾力打造,可通过云端或本地化一体机,为临床医生提供可靠、便捷的基因检测解决方案。AEGIS™是安吉康尔临床决策辅助系统的核心,其整合了安吉知识图谱以及最新的AI技术,助力临床遗传疾病精准诊断。 The AEGIS™ platform is elaborately developed by our in-house experts in computer sciences, bioinformatics, medicine, and genetics, and is capable of providing fast and reliable genomic solutions to physicians through cloud or local server. The AEGIS™ is integrated with our AegiKG™ databased and the lastest AI technology, and is the core for our clinical decision support system.

AEGIS™由五大智能模块组成The AEGIS™ platform is composed of 5 modules

1、LIMS实验室信息管理系统。完全根据用户实际需求量身定制,用于样本管理、实验流程跟踪和质量监控,实现从样本采集到测序上机的实验全流程中信息的准确记录和传递。1. Laboratory information management system (LIMS): The system is fully adaptable to the specific needs of individual clinical labs and different experimental procedures. It enables efficient tracking and management of each sample through the whole process from sample collection till reporting.

2、WEAVER生物信息分析系统。采用安吉康尔自主研发的生物信息学智能算法,用户友好的可视化操作界面,一键式简易操作体验,真正实现零基础生信分析,同时确保信息准确传输和校验。 2. WEAVER Bioinformatics Pipeline: Built with our proprietary algorithm and easy-to-use interface, the WEAVER pipeline performs fast and accurate analysis of next generation sequencing data, and facilitate the interpretation of genetic information.

3、智能基因诊断系统。基于大数据和人工智能的表型打分、突变筛选和致病评级系统,帮助临床医生判断与临床表型相关的致病突变。该系统支持用户自定义个性化筛选逻辑,并且核心数据库实时更新。3. Genomic Intelligence Diagnosis Tool: Powered by the advanced natural language processing and deep learning algorithm, this tool can quickly extact phenotype information from medical record, and prioritize variants based on their association with patients’ phenotypes, therefore enables rapid diagnosis of causal mutations.

4、报告管理系统。为每位用户打造自定义报告模块和呈现形式,系统自动根据每一位患者的检测项目、临床表型和突变情况出具报告。4. Automatic and customizable Reporting System: This powerful reporting system can automatically generate genetic analysis report that contains comprehensive evidences for each identified variant-disease association. The report modules and styles are also fully customizable.

5、安吉知识图谱。OMIM、GeneReviews、DECIPHER、ClinVar、DGV等大量权威数据库信息一站式检索。该知识图谱包含了上万例安吉独家病例的完整数据。5. AegiKD™ Knowledge Database: The AegiKD™ is integrated with over 10,000 in-house phenotype-sequence associations, and information from >20 key data sources, such as OMIM, HGMD, ClinVar, GeneReviews, DECIPHER and DGV. This database serves as an all-in-one search tool, and also drives the development of our deep learning-based pipelines.

服务对象

第三方医学检验实验室、医院遗传检验实验室· Independend Third Party Clinical Labs
· Hospital in-house DNA Diagnostic & Research Labs

服务内容How we serve:

1、用户自行测序和生信分析,需要突变分析和报告解读服务。AEGIS™开通云平台服务,并且配备专业技术人员进行系统维护、报告解读和技术支持。Aegicare provides acess to AEGIS™-Cloud server, clients can upload data in fastq or vcf format, and perform analysis on themselves. Aegicare provide technical support and genetic counselling services as needed.

2、用户自行测序,需要生信分析+突变分析+报告解读。安吉康尔根据用户需求定制AEGIS™临床决策辅助系统;投放本地化软硬件打包的AEGIS™临床决策辅助系统一体机;配备专业技术人员进行系统维护、数据库升级、报告解读和技术支持。Aegicare installs local computing station with pre-installed and full-customized AEGIS™ system. The AEGIS™ can manage samples, clinical reports, experiments, data analysis and reports in a centralized location, streamline the NGS analysis and reporting processes, and help to maximize the efficiency and diagnosis rate.

核心技术Product Highlights:

1、基于AegiKG的表型智能分析。表型分析对于遗传疾病诊断,特别是神经系统等涉及基因多、表型表现度不一、表型复杂多变的疾病种类尤其关键。安吉康尔采用最新的自然语言处理技术,结合语义相似度计算等,辅助遗传疾病的智能表型分析。表型智能分析一方面可以缩小目标基因范围,同时可以将候选基因排序,助力精准快速诊断。Complete phenotype information is essential for making a genetic diagnosis. Medical record serves as a good source for phenotype information, however the massive amount of natural language need to be properly processed to generate structured phenotype data which can then be incoporated into the analysis pipeline.
Aegicare employs the most advanced natural language processing (NLP) algorithm, that can accurately parse medical record and extract the phenotype information. It's phenotype-scoring schemes can help to identify genes that are most likely to be responsible for the patients' clinical manifestation.

2、突变有害性预测与自动评级。在表型分析的基础上,突变位点的精准评级可以进一步提高诊断的精准度。安吉康尔基于bi-LSTM,结合多物种序列保守性、蛋白质二级结构等预测位点致病性。与此同时,通过结合内部病例的历史评级记录以及ACMG指南,自动进行突变评级(Aegivar)。Aegivar两大主要特点:根据ACMG指南,考虑各种突变类型,相比Intervar等开源工具具有更广适用范围;结合内部突变数据库,可以调整ACMG证据的使用强度,实现自动评级。 Variant classification is an important step in genetic analysis. Aegicare developed a sophisticated deep-learning-based system, that's built upon the bi-LSTM model, and trained to perform evolutionary coservation and protein strucutre analysis, therefore serves as a in silico functional analysis tool to facilitate the evaluation of genomic variants.
At the same time, our AegiVar tool helps to streamline the variant classification process by incorporating our internal AegiKG™ database, the curated historical record, and information from the lastest lituratures, and it is therefore more efficient and accurate than other open-source tools.