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High Throughput QC
Quality Control at the Swedish National Genomics Infrastructure
Phil Ewels
@ewels
@tallphil
Bioinfo-Core Workshop
2017-07-24
ISMB 2017, Prague
ISO accredited facility
Library preparation
Sequencing
Bioinfo analysis
NGI stockholm
ISO accredited facility
Library preparation
Sequencing
Bioinfo analysis
“This means that our services are subject to highly stringent quality control
procedures, so that you can be sure that your data is of excellent quality.”
NGI stockholm
2 x MiSeq 5 x HiSeq 2500 5 x HiSeq X10 NovaSeq
RNA-Seq
WG Re-Seq
Targeted Re-Seq
Metagenomics
Others
0 2000 4000 6000 8000 10000 12000 14000
1,265
2,580
3,214
8,934
12,017
Number of
Samples in 2016
1141 Gbp/day
1X Human Genome
every 4 minutes
NGI stockholm
QC with lots of samples
Always Occasionally
Automation
Visualisation
(spot outliers)
Manual checks Validations
Looking for
trends
Good quality control at scale is essential
QC Automation
All sample metadata in a database
Genomics
Status
OrderPortal
QC Automation
Automated workflows
QC Automation
Collection + visualisation of results
QC Automation
Collection + visualisation of results
Genomics
Status
Genomics
Status
QC with lots of samples
Always Occasionally
Automation
Visualisation
(spot outliers)
Manual checks Validations
Looking for
trends
Long term trends
coming soon…
Long term trends
Data available from

2253 samples, 738 reports
Choose a plot type1
Select data2
Data HistogramReport plot Compare DataData Trend
Long term trends
Data available from

2253 samples, 738 reports
Select samples2
Choose a plot type1 Data Trend
+ Add Filter
Metadata field: [ select value ]
Minimum: Maximum
[ 837 samples ]
Date: 2017.01.01 - 2017.03.01
Application Type: WGS
Long term trends
Data available from

2253 samples, 738 reports
Select samples2
Choose a plot type1 Data Trend
[ 837 samples ]
Plot data3 Picard: % Dups Qualimap: > 30X [ add data ]
• Each lab technique has a protocol
• Changes require validation
• Internal audits
• Horizontal (one step)
• Vertical (one sample)
NGI stockholm
Validations
In-depth reproducibility checks
stockholm
uppsala
NGI stockholm
Analysis Validation
• Versioned pipeline releases
• New versions require a validation test
• Runs logged and reported
• Continuous integration tests
Analysis Validation
Analysis Validation
*
*
*
Conclusion
http://github.com/SciLifeLab
http://multiqc.info
http://opensource.scilifelab.se
NGI stockholm
Phil Ewels
phil.ewels@scilifelab.se
ewels
tallphil
Acknowledgements
Max Käller
Rickard Hammarén
Denis Moreno
Francesco Vezzi
NGI Stockholm Genomics Applications
Development Group

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Developing Reliable QC at the Swedish National Genomics Infrastructure