Genomic sequencing Flashcards
genomic sequencing can be used in
- personalised medicine
- genetic disease
- clinical diagnosis
history of genetic sequencing can be broken down to three stages
first-generation
second-generation (NGS)
third- generation
the first generation included the invention of the
chain termination technique
the chain termination technique is now called
Sanger sequencing
sagger sequencing provide high quality reads of up to
1 kb
sanger sequencing is still often regarded as
the gold standard for DNA sequencing
sanger sequencing benefits
high fidelity- therefore used to validate NGS data
sanger disadvantages
low-throughput
difference between first-generation and second-generation seuqnecing
- consierdably shorter reads (a few hundred)
- massively higher throughput
throughput in second gen
billions of reads per run
second gen name
NGS
Names of NGS sequencing systems (2)
IlluminaMySeq
SOLiD system
name 3 different sequencing techniques for NGS
pyrosequencing
Sequencing by synthesis
Sequencing by ligation
short read platforms allow scientists to
quickly hunt for causative mutations in a panel of disease genes- the exome or even the entire human genome
short read lengths can
introduce gaps and ambitious regions in de novo assmebly
