分子生物学专业英语

Whole genome sequencing (WGS) 

SNV(single-nucleotide-variant)

Indel(insertions and deletions)

SV(structural variant):（ insertions, deletions, duplications, inversions, and translocations）

Copy number aberrations (CNAs) are also a class of structural variants.

GC bias/coverage bias

gene annotation

非负矩阵因式分解( nonnegative matrix factorization，NMF)：将突变目录分解为突变信号矩阵（mutational signature matrix）和曝光矩阵（exposure matrix，其中包含每个基因组中每个identified signature的活性）

COSMIC, the Catalogue Of Somatic Mutations In Cancer, is the world's largest and most comprehensive resource for exploring the impact of somatic mutations in human cancer.

intron-exon

alignment

Digital gene expression (DGE) analysis

单细胞RNA测序（ single-cell RNA-sequencing）

dimension reduction analysis

二硫键（disulfide bond） 

Whole Genome Amplification，WGA

DOP-PCR(Degenerate Oligonucleotide Primed PCR，简并寡核苷酸引物PCR)

LM-PCR(ligation-mediated pcr amplification，连接反应介导的PCR扩增)

PEP-PCR(primer extension preamplification（PEP），扩增前引物延伸法)

MDA Multiple Displacement Amplification, 多重置换扩增

DMF（Digital microfluidics，数字微流体）

MALBAC(Multiple Annealing and Looping Based Amplification Cycles，多次退火环状循环扩增技术)

正义链 sense strand：携带有编码蛋白质氨基酸信息的链 编码链
反义链 antisense strand：作为转录模板的链，与RNA反向互补 模板链

CNV(copy number variant)

1、减数分裂重组   meiotic recombination
2、双链断裂的同源定向和非同源修复  homology-directed and nonhomologous repair of double-strand breaks
3、复制错误   errors in replication

CNP(Copy Number Polymorphisms)：拷贝数多态性是在人群中超过1%存在的常见的CNV，而在不到1%的人群中发现的CNV被认为是罕见的。

formalin-fixed paraffin-embedded tissues 甲醛固定石蜡包埋组织

宏基因组 ( Metagenome)是由 Handelsman 等在1998年提出的概念， 其定义为“the genomes of the total microbiota found in nature” ,即环境中所有微生物基因组的总和。