7. NGS: Next-Generation Sequencing. A group of
different sequencing technologies defined by
high throughput and low cost
A Short Primer on Common Terms
8. NGS: Next-Generation Sequencing. A group of
different sequencing technologies defined by
high throughput and low cost
Short Read: The output from most NGS
sequencing technologies. Range from 30bp to
300bp
A Short Primer on Common Terms
9. NGS: Next-Generation Sequencing. A group of
different sequencing technologies defined by
high throughput and low cost
Short Read: The output from most NGS
sequencing technologies. Range from 30bp to
300bp
Mapping: Placing sequencing reads on to a
reference genome
A Short Primer on Common Terms
10. NGS: Next-Generation Sequencing. A group of
different sequencing technologies defined by
high throughput and low cost
Short Read: The output from most NGS
sequencing technologies. Range from 30bp to
300bp
Mapping: Placing sequencing reads on to a
reference genome
Variant Calling: Identifying sites of genetic
variation between a sample and a reference
genome
A Short Primer on Common Terms
11. A Short Primer on Common Terms
NGS: Next-Generation Sequencing. A group of
different sequencing technologies defined by
high throughput and low cost
Short Read: The output from most NGS
sequencing technologies. Range from 30bp to
300bp
Mapping: Placing sequencing reads on to a
reference genome
Variant Calling: Identifying sites of genetic
variation between a sample and a reference
genome
Paired End: Two short reads from the same
fragment of the genome, one from each end
24. Unpacking the Black Box
Quality assurance of primary data
Map short reads to a reference
25. Unpacking the Black Box
Quality assurance of primary data
Map short reads to a reference
Quality assurance of mapping process
26. Unpacking the Black Box
Quality assurance of primary data
Map short reads to a reference
Quality assurance of mapping process
Identify genetic variation (mutations,
translocations, etc)
27. Unpacking the Black Box
Quality assurance of primary data
Map short reads to a reference
Quality assurance of mapping process
Identify genetic variation (mutations,
translocations, etc)
Quality assurance of variants
28. Unpacking the Black Box
Quality assurance of primary data
Map short reads to a reference
Quality assurance of mapping process
Identify genetic variation (mutations,
translocations, etc)
Quality assurance of variants
Variant annotation
29. Unpacking the Black Box
Quality assurance of primary data
Map short reads to a reference
Quality assurance of mapping process
Identify genetic variation (mutations,
translocations, etc)
Quality assurance of variants
Variant annotation
Variant filtering
30. Unpacking the Black Box
Quality assurance of primary data
Map short reads to a reference
Quality assurance of mapping process
Identify genetic variation (mutations,
translocations, etc)
Quality assurance of variants
Variant annotation
Variant filtering
Reporting (Text, Visualization)
61. Incidental Findings
ACMG Recommendations
56 Genes
Report on known
pathogenic mutations for all
Report on suspected
(predicted) pathogenic for
some
Based on actionability
Allow for patient opt-out?
70. Conclusions
Clinical sequencing is here
Bit of a learning curve but pay-off is potentially
huge
Future proofing
Be comfortable with genetics
71. Conclusions
Clinical sequencing is here
Bit of a learning curve but pay-off is potentially
huge
Future proofing
Be comfortable with genetics
Make friends with your friendly local
bioinformatician
72. Conclusions
Clinical sequencing is here
Bit of a learning curve but pay-off is potentially
huge
Future proofing
Be comfortable with genetics
Make friends with your friendly local
bioinformatician
Leveraging 'Big Data' to make big decisions
73. Conclusions
Clinical sequencing is here
Bit of a learning curve but pay-off is potentially
huge
Future proofing
Be comfortable with genetics
Make friends with your friendly local
bioinformatician
Leveraging 'Big Data' to make big decisions
Future: Clinical trails of size 1
