【2018 醫療科技展 - 創新技術發表會】Making Data-Driven Medicine a Reality: High Precision in Routine Clinical Diagnostic using SOPHiA
The potential of NGS for multi-biomarker testing in the clinical diagnostic context is unquestioned. However, the inherent complexity of the NGS workflow and the need to accurately handle large amounts of sequencing data remain key obstacles to the wide spread adoption of NGS in routine diagnostic testing. SOPHiA GENETICS provides an advanced and universal technology for NGS data analysis, namely SOPHiA collective artificial intelligence. Furthermore, the knowledge acquired by SOPHiA through the analyses of large amounts of data has allowed the development of a highly optimized wet lab solutions to improve the quality of raw data. Thus, SOPHiA GENETICS bundles the analytical power of SOPHiA AI with target enrichment kit and full access to SOPHiA DDM® platform, an intuitive software-as-a-service(SaaS) platform that It integrates features facilitating variants visualization and interpretation while assuring protection of clinical genomic data. The interpretation is facilitated thanks to SOPHiA AI, that pre-classifies variants in different pathogenicity classes - from highly pathogenic to benign and integrates it with ACMG guidelines for variant categorization. Clinicians can directly interpret the variants and generate a variant report – all that within one tool.

利用次世代定序技術(NGS)應用於多種臨床生物標記之檢測時代已經毋庸置疑的正式到來了。然而,定序製備的繁瑣流程以及如何精確分析龐大的定序數據仍是臨床應用時的重要瓶頸。為了解決數據分析所遇到的問題,SOPHiA GENETICS為一專業的生物資訊服務公司,運用人工智慧 SOPHiA有效的幫助研究者從定序數據中獲得高價值的生物資訊,並提供最佳化的完整實驗方案以增進定序數據的品質。SOPHiA GENETICS的定序試劑套組(target enrichment kit)搭配人工智能演算平台SOPHiA DDM®,一個專為使用者設計的軟體服務平台,除了提供簡單的操作和一目了然的圖形介面外,更提供深入的基因變異註解資訊和最高標準的臨床資料安全性。SOPHiA DDM® 的註解資訊包含基因變異的致病相關性,利用人工智能 SOPHiA整合美國醫學遺傳與基因體學會 (America College of Medical Genetics and Genomics:ACMG) 的建議方針,透過人工智慧預測基因變異的臨床致病分類程度。藉此臨床醫師可在單一平台上獲得所有的基因變異與註解資訊的參考資料報告。

時間:2018年11月30日(五) 12:00~12:30
地點:台北南港展覽館4樓404會議室
講者:Giorgia Riboldi-Tunnicliffe - Subject Matter Expert, SOPHiA GENETICS
主辦單位:SOPHiA GENETICS、均泰生物科技有限公司
聯絡電話:02-27965108 李小姐 gtclub@gtbiotech.com.tw

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