Oxford-Nanopore eBook - 3

Introduction

T

raditional sequencing technologies

sources of genomic variation, such as:

over the last decade have delivered

*	
*	
*	
*	

unprecedented insight into human

health and disease. Providing high-resolution
analysis of multiple genomic loci across

Structural variation
Repetitive regions
Phasing
Transcript isoform expression

applications.

Oxford Nanopore's DNA/RNA sequencing technology delivers
ultra-long reads (up to 2 Mb), enabling rapid and comprehensive analysis of variants. With devices scalable from portable to
benchtop, nanopore sequencing offers a cost-effective solution
to the challenges faced by traditional sequencing platforms.

Whilst these technologies have proven adept at detecting
single nucleotide variants (SNVs) in many areas of the
genome, the inherent reliance on short sequencing reads
(150-300 bp) limits their ability to detect other important

Read on to hear from experts in clinical research and
nanopore sequencing to see how they're utilising nanopore
technology to deliver new insights into human health and
disease.

many samples, sequencing has become the
standard approach for many clinical research

Contents
Dr. Andrew Beggs:
From Bench to Clinic: The Potential of New Sequencing Tools. . . . . . . . . . . . . . . . . . . . . . .

4

Resolving structural variants with long-read
nanopore sequencing. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

6

Shruti Iyer:
New Tools for Studying Genetic Variation in Cancer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

8

Targeted, PCR-free analysis of cancer-associated
genes with Cas9. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

10

Professor Justin O'Grady: TB or Not TB?
Using Advanced Methods to Track Infectious Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . .

12
Genome Assembly of an extensively drug-resistant pathogen. . . . . . . . . . . . . . . . . . . . . 14
Alison Tang: Using Nanopore Sequencing to Study
Full-Length Transcripts and Splicing Isoforms. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

16
Resources.. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18
Oxford-Nanopore eBook

Table of Contents for the Digital Edition of Oxford-Nanopore eBook
