Thread by @investing_city

Genomics Thread #2

Let's talk about gene sequencing...

1/ The first genome was sequenced in 1977 by Fred Sanger of a bacteriophage.

The first human genome wasn't sequenced until 2003 after 13 years of research through the Human Genome Project.

It took $3 billion (apparently $1 for each base pair 😅)

2/ In the past two decades, the cost of sequencing DNA has declined at an astounding rate.

From $3 billion with the Human Genome Project to well under $1,000 today.

3/ But before going deeper, let's make sure we understand what gene sequencing is and why it's important.

So what is it?

It's a complex process that reveals the exact order of base pairs (those A-T, C-G pairs we talked about) in your DNA.

4/ What's crazy is that 99.9% of human DNA is the same. The 0.1% differences make us unique.

These differences can be referred to as SNPs (single nucleotide polymorphisms).

And why is this important?...

5/ Knowing the exact sequence of DNA base pairs has many implications ranging from informing your familial disease history to understanding which genes are associated with certain diseases.

If DNA is your source code, a mutation is a software bug that can hopefully be fixed.

6/ As we talked about in the beginning, the 1st generation of sequencing was pioneered by Fred Sanger.

The next generation was short-read sequencing (SRS), viciously commercialized by Illumina.

Illumina still has a gigantic market share for high-throughput sequencing machines.

7/ But more recently, there is a 3rd generation of sequencing machines -- long-read sequencers (LRS), led by Pacific BioSciences and Oxford Nanopore.

8/ I won't go into the details but you can learn about the differences between PacBio's tech and Oxford Nanopore's here:

PacBio:


Oxford Nanopore:

End/

Short-read sequencers aren't going away but long-read sequencers seem to have a few key advantages that I will discuss in Genomics Thread #3 😁

Thanks for following along so far!