PacBio全基因組測序和組裝

PacBio公司的業務范圍也就5個（官網）：

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

其中全基因組測序應該是PacBio的拿手好戲，因為它這么貴（貌似是二代的10倍），但它的核心優勢就是長，還有無偏向性；這在科研上可就立馬變成香餑餑了，現在用純二代技術根本就發不了基因組的文章了，稍微高端點的分析都會用上三代的技術。

Fully characterize genetic variation 遺傳變異 within and between species

揭示了 genetic and epigenetic variations（遺傳和表觀遺傳的變異）

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

全基因組組裝又有如下方面：

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)有什么區別?

如果在一個物種中該單鹼基變異的頻率達到一定水平就叫SNP,而頻率未知（比如僅僅在一個個體中發現）就叫SNV.

順便區分一下CNV，拷貝數變異

structural variation，結構變異

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.