Isabl GxT: A clinically actionable whole genome and transcriptome precision medicine platform

项目摘要 伊莎贝尔公司是纪念斯隆凯特琳癌症中心的一个分支，旨在推出一种癌症 全基因组和转录组测序（cWGTS）诊断测试，用于儿科和罕见 癌症患者。该SBIR的产品是Isabl GxT，这是一个精密医学平台， 将cWGTS数据整合到强大的数据科学框架中， 在临床相关的时间范围内进行报告，并促进肿瘤学中新的生物标志物的发现。 Isabl已经产生了重要的可行性和临床实用性数据，并取得了突破性进展。 FDA指定的器械。该项目的目标是：1）进行分析和临床 有效性研究，2）开发商业级临床生物信息学平台，以及3）扩展 现有检测对其他生物样本类型的效用。长期目标是增强 肿瘤学与一个全面的癌症测试。

Project Summary Isabl Inc. is a Memorial Sloan Kettering Cancer Center spin out, aiming to launch a cancer whole genome and transcriptome sequencing (cWGTS) diagnostic test for pediatric and rare cancer patients. The product of this SBIR is Isabl GxT, a precision medicine platform that incorporates cWGTS data into a robust data science framework to enable clinically actionable reporting in a clinically relevant timeframe and facilitate novel biomarker discovery in oncology. Isabl has generated significant feasibility and clinical utility data and obtained breakthrough device designation by the FDA. The aims of this project are: 1) perform analytical and clinical validity studies, 2) develop a commercial grade clinical bioinformatics platform, and 3) extend utility of the existing test to additional biospecimen types. The long-term objective is to empower oncology with one comprehensive cancer test.