V2EX exome

Exome

定义 Definition

外显组:指一个生物基因组中所有外显子(exons)的集合,也就是通常会被转录并最终编码蛋白质的那部分序列。日常语境中也常指对这部分区域进行检测的外显组测序/检测(exome sequencing / exome test)。

发音 Pronunciation

/k.som/

例句 Examples

The doctor ordered an exome test to look for genetic causes.
医生安排了外显组检测,以寻找遗传原因。

By comparing the patient’s exome with a reference, researchers identified a rare disease variant.
研究人员将患者的外显组与参考序列对比,找到了一个与罕见病相关的变异。

词源 Etymology

exomeexon(外显子) + -ome(表示“整体/全部”的后缀,如 genome 基因组)构成,属于生物信息学与遗传学中仿照 genome 的构词方式,用来表示“外显子的整体集合”。

相关词 Related Words

文献与作品 Literary Works

  • Nature(遗传学与医学遗传相关论文中常见,如外显组测序用于致病变异发现)
  • Science(人类遗传与疾病机制研究中常用术语)
  • *The New England Journal of Medicine (NEJM)*(临床遗传诊断与外显组测序应用报道中常见)
  • The American Journal of Human Genetics(人类遗传学研究中高频出现)
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