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Printable Handouts
Navigable Slide Index
- Introduction
- Outline of lecture
- Sanger sequencing
- Sanger sequencing: background
- Human genome project
- Next generation sequencing technologies
- The next generation of DNA sequencing (1)
- The next generation of DNA sequencing (2)
- The next generation of DNA sequencing (3)
- Illumina (Solexa) sequencing
- Illumina Step 1: DNA library construction
- Illumina Step 2: cluster generation
- Illumina Step 3: sequencing-by-synthesis
- Illumina sequencers
- Target Enrichment (1)
- Target Enrichment (2)
- Target Enrichment (3)
- Target Enrichment (4)
- Analysis of NGS data
- NGS data analysis
- Process raw sequence data (primary analysis)
- Alignment to the genome (secondary analysis)
- Variant detection (tertiary analysis)
- Making sense of variant data (quaternary analysis)
- Applications of NGS technology
- Neurogenetics (1)
- Neurogenetics (2)
- Neurogenetic diagnostics
- Applications of NGS in genetic diagnostics (1)
- Dementia
- Genetic causes of dementia
- Design of a NGS dementia diagnostic panel (1)
- Design of a NGS dementia diagnostic panel (2)
- Design of a NGS dementia diagnostic panel (3)
- Dementia diagnostic panel: blind study
- Dementia diagnostic panel: gene coverage
- Dementia diagnostic panel: blind study results
- Dementia diagnostic panel: summary
- Applications of NGS in genetic diagnostics (2)
- Parkinson’s disease (PD)
- Parkinson’s disease genetics
- Design of a PD NGS diagnostic panel
- Validating Parkinson’s disease diagnostic panel
- PD diagnostic panel: blind study results
- PD NGS diagnostic panel: summary
- Thank you
Topics Covered
- Sanger sequencing
- Next generation sequencing (NGS) technologies
- Target enrichment
- Analysis of NGS data – Neurogenetics
- Applications of NGS technology in genetics diagnostics (Dementia diagnostic panel, Parkinson’s disease NGS diagnostic panel)
Links
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Talk Citation
Pittman, A. (2014, July 1). Next generation sequencing in genetic diagnostics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 5, 2024, from https://doi.org/10.69645/ADZL7856.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Alan Pittman has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Neurology
Transcript
Please wait while the transcript is being prepared...
0:00
Hello.
My name is Dr. Alan Pittman,
from the Institute of Neurology.
Today I'm going to be
talking about next generation
sequencing in genetic diagnostics.
0:12
So just to give you a quick
outline of today's lecture,
first we'll be talking about
Sanger sequencing methods.
I'm then going to move on to next
generation sequencing technologies.
I'm going to talk about
target enrichment, how we
analyze next generation
sequencing data.
And then I'm going to
talk about applications
of this technology in
genetic diagnostics.
0:33
First up, Sanger sequencing.
0:37
Sanger sequencing.
This technique was first invented
by Fred Sanger back in 1977.
It's a cycle sequencing
technique based
on the principle of full
color chain terminators.
This method is extremely
accurate but very slow.
0:55
The Human Genome Project.
This project began back in 1990
and took 13 years to complete.
The 3 billion base pair
long genome was all
sequenced with the Sanger method.
The reason this was undertaken
was to drive genetics research.
We can now achieve this amount of
sequencing in as little time as one
day with the new technologies
I will be talking to you about.
1:22
Moving on to next generation
sequencing technologies.
1:27
The next generation
of DNA sequencing.
So recently we have moved
on from Sanger sequencing
to a more high-throughput
approach, the biggest change
being now we sequence
DNA molecules in parallel
rather than one sequence at a time.
This has been driven by new
technological advances which I will
be speaking about through
the remainder of the lecture.