PacBio全基因组测序和组装

Posted 2020-08-21 Digital-LI

PacBio公司的业务范围也就5个（官网）：

1. Whole Genome Sequencing
2. Targeted Sequencing
3. Complex Populations
4. RNA Sequencing
5. Epigenetics

其中全基因组测序应该是PacBio的拿手好戏，因为它这么贵（貌似是二代的10倍），但它的核心优势就是长，还有无偏向性；这在科研上可就立马变成香饽饽了，现在用纯二代技术根本就发不了基因组的文章了，稍微高端点的分析都会用上三代的技术。

Fully characterize genetic variation 遗传变异 within and between species

揭示了 genetic and epigenetic variations（遗传和表观遗传的变异）

all types of genomic variation, revealing SNPs/SNVs, structural variants, mobile elements, haplotypes, epigenetics, and variants in low-complexity regions.

全基因组组装又有如下方面：

1. Human Whole Genome Sequencing
2. Plant and Animal Whole Genome Sequencing
3. Microbial Whole Genome Sequencing
4. Structural Variation

SNV(single nucleotide variants)和 SNP(single nucleotide polymorphism)有什么区别?

如果在一个物种中该单碱基变异的频率达到一定水平就叫SNP,而频率未知（比如仅仅在一个个体中发现）就叫SNV.

顺便区分一下CNV，拷贝数变异

structural variation，结构变异

In fact, the majority of variant bases in the human genome occur in structural variants2.

As our understanding of human genetic diversity grows, it becomes clear that reference selection is not a one-size-fits-all proposal3.