Chapter 3: Technologies

Chapter goals:

  1. Understand the basic concept of SNP chip genotyping (also called beadchip, bead array, microarray), and the high level data handling process.

  2. Gain introductory knowledge of Next Generation Sequencing (NGS), and implementation of this technology to sequence DNA.

3.1 SNP Array Genotyping

This video by Dr. Mészáros is focused on understanding the SNP chip technology: how SNP chips work and why they are useful.

Title: SNP Chips (Introduction to genomics theory)

Presenter(s): Gábor Mészáros, PhD (Institute of Livestock Sciences (NUWI), University of Natural Resources and Life Sciences)

Length: 28:05

Link to video transcript here. Tradução para o português disponível aqui.

Powerpoint slides for this video are available here.

3.2 Next Generation Sequencing

This section gives an introduction to Next Generation Sequencing. The first video by Dr. Kiel gives a very brief introduction to the concept of DNA sequencing, and how nucleotide bases are “read” from the DNA. The second video from ClevaLab gives a more detailed view of Next Generation Sequencing, how it differs from Sanger sequencing, and the different steps involved in sequencing a DNA sample with NGS methods, including library preparation, Sequencing by Synthesis and the sequencing reaction, cluster generation from fragments, indexing, filtering, mapping, and demultiplexing the reads.

How to Sequence the Human Genome

Title: How to sequence the human genome

Presenter(s): Mark J. Kiel, MD, PhD (Genomenon)

Length: 5:04

Link to video transcript here. Tradução para o português disponível aqui.

Next Generation Sequencing: A Step-by-Step Guide to DNA Sequencing

Title: Next Generation Sequencing: A Step-by-Step Guide to DNA Sequencing

Presenter(s): ClevaLab

Length: 7:37

Link to video transcript here. Tradução para o português disponível aqui.