由基礎觀念開始介紹精準醫學與次世代定序,包括方法學、使用平台、基因檢測分類、驗證方法、生物資訊分析、國內外資料庫比對與臨床應用
-Method: NGS vs Sanger
-Platform: Illumina, Ion Torrent, Pacific Bio
-Type: DNA, RNA, epigenetics
-Scope: WGS, WES, Panel, hot spots
-Metrics: accuracy, depth, uniformity
-Sequence alignment
-Variant annotation
-Biological interpretation
-Clinical implication
-Public domain database