2014-review-Next-generation sequencing to guide cancer therapy

 This reductionist thinking led the initial theories on carcinogenesis to be centered on how many “hits” or genetic mutations were necessary for a tumor to develop.
还原论者认为导致癌症发生发展的原因集中在一些必须因子-"hit" or genetic mutations
分析方法的选择:microarray vs WGS vs WES
临床样品的选择:fresh frozen tissue  / FFPE specimens /CTCs / ctDNA
临床NGS数据分析方法:mapping --> SNVs CNVs and SVs --> annotation
            2,很多临床相关的DNA fushions发生在非编码区,所以WES也会错过不少信息的
临床NGS数据注释 :多种数据库,多种数据分析方法
NGS辅助临床医疗的三个途径: 1, diagnosis,早期诊断,精确分类 2,针对性治疗3,耐药性,及时换药
CTC: Circulating tumor cell;
ctDNA: circulating tumor DNA;
 FDA: Food and Drug Administration;
FFPE: Formalin-fixed, paraffin-embedded;
MATCH: Molecular Analysis for Therapy Choice;
MHC: Majorhistocompatibility complex;
NGS: Next-generation sequencing;
SNV: Singlenucleotide variant;
TCGA: The Cancer Genome Atlas.

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