Sequencing 101: How does whole genome sequencing help us understand rare diseases?

Rare diseases are defined as diseases that affect a small number of people — fewer than 1 in 2,000 in the European Union and fewer than 200,000 total people (about…
This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.
Rare diseases are defined as diseases that affect a small number of people — fewer than 1 in 2,000 in the European Union and fewer than 200,000 total people (about…
If you are like most of us at PacBio, you likely learned how to extract DNA in a high school or college biology class, or maybe even in your kitchen….
This blog post has been updated. It was originally published September, 2016. In recent interactions with the scientific community, we’ve seen a growing number of questions around scaffolding genome assemblies….
Geneticists often point out that a human does not have “a” genome but rather two genomes: one inherited from the mother and another from the father. The number of complete…
The study of genomics has revolutionized our understanding of science, but the field of transcriptomics grew with the need to explore the functional impacts of genetic variation. While different tissues…
Starting a sequencing project can be daunting. First of all, there are several types of sequencing technologies, each based on unique processes. At PacBio, we use a technology called Single…
For scientists who utilize DNA sequencing in their research but are not experts in the underlying technology, it can be difficult to determine the accuracy of sequencing results — and…
What is a pangenome? Unless you have an identical twin, no other person has a genome that is identical to yours. The same is true for other animal, plant, and…
The COVID-19 pandemic has brought a sudden urgency to virus research and led many of us to dig more deeply into all the tools available for characterizing viral genomes, from…
We’re pleased to release a short video describing PacBio sequencing and our latest platform, the Sequel II system. If you’ve ever wondered how Single Molecule, Real-Time (SMRT) sequencing works, what…
Welcome to the Sequencing 101 blog series — where we will provide introductions to sequencing technology, genomics, and much more. If you’re not immersed in the field of DNA sequencing,…
With high-throughput long-read sequencing, it is now affordable and routine to produce a de novo genome assembly for microbes, plants and animals. The quality of a reference genome impacts biological…
In eukaryotic organisms, the majority of genes are alternatively spliced to produce multiple transcript isoforms. Gene regulation through alternative splicing can dramatically increase the protein-coding potential of a genome. Therefore,…
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