基础生物知识

1.SNP

single nucleotide polymorphisms——单碱基多态性
SNP_what are single nucleotide polymorphisms
单核苷酸多态性

2.CNV

3.可变剪接（alternative splicing）

4.Gene isoforms

Gene isoforms are mRNAs that are produced from the same locus but are different in their transcription start sites (TSSs), protein coding DNA sequences (CDSs) and/or untranslated regions (UTRs), potentially altering gene function.

5.RPKM & OPKM

1. RPKM: Reads Per Kilobase per Million mapped reads
   （1）定义：每百万reads中在某基因每千碱基长度映射的reads数
   （2）作用：标准化后（标准化为每百万reads和每千碱基长度）比较对于同一样本不同基因的表达
   量
2. OPKM:校正基因长度和样本含量

6.Hi-C

Hi-C技术简介及原理解释

7.nuclear lamina——核纤层

位于核基质内，向内与核内膜相连，向外与内质网相连。