guidelines for ngs diagnostics validation critical steps ... filearitmia amc yes 47 targeted a...
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Bert Bakker (LUMC), Bart Janssen (SXS) Milan Macek (Charles University, Prague)
Guidelines for NGS diagnostics Validation
Critical steps in the process
Project acronym: 3Gb-TESTProject full title: " Introducing diagnostic applications of ‘3Gb-testing’ in human genetics "Name of the coordinating person: E. Bakker, LeidenGrant agreement no: 602269September 2013- 2015
Bert Bakker (LUMC), Bart Janssen (SXS)
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Research = Diagnostics
2005- 2010- 2013
2009-2012
http://www.eurogentest.org/.........../final_draft_02-12-2014_v2.pdf
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Guidelines
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Guidelines for NGS diagnostics
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TERMINOLOGY
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For diagnostic purpose, only genes with a known (i.e. published and confirmed) relationship between the abberant genotype and the pathology should be included in the analysis.
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‘Core gene’ list
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‘Scoring system’ for gene panel and exomes
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LIST centre
core NL (Yes/No)
core cente(Yes/No)
core (# genes)
Total #genes
Targeted/WES score
Avaragehorizontal coverage (20x depth) Implem.
CARDIOcardiomyopathy AMC YES YES 45 46targeted B Yescardiomyopathy Groningen YES YES 45 52 Yescardiomyopathy Maastricht YES YES 45 46 Yescardiomyopathy Rotterdam YES YES 47 47targeted Yescardiomyopathy Utrecht YES YES 45 69targeted B >99%; >95% Yes
Transduction dis. Utrecht YES YES 33 B >95% YesAritmia AMC YES 47 targeted A >99% Yes
CARDIO panel
Vision dis. AMC No 232 WES C YesVision dis. Nijmegen No 272 WES CHearing impairment
Nijmegen No 119 WES Clens luxatie VUMC ja 5 targeted A ja
SENSORY NEURAL DISEASES “gene panel”
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The quality of a sample can/ should be evaluated at 3 levels:
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Reporting
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Research vs Diagnostics
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