Post on 23-Jan-2018
clinical vs. research
environment!
collection of variant data!
HIPAA compliance Rigorous quality control Conclusions based on
single observation
Need to collect variant data
Private and public efforts
CLINVAR
!ü validated test procedures!ü sample fingerprinting !ü gender and ancestry marker !ü real-time assesments!
!
QC in the lab!
Validation of test assays include both internal as external
validation!!!
accuracy!sensitivity!specificity!
reportable range detection limit
reproducibility of test!!
gold reference standard samples
used for internal validation!
!undisclosed !
sample/data provided by the external test
authority!ISO I CLIA I CAP I EMQN
Quality of data!Systematism!
Sharing!
Pathogenic!Likely pathogenic!
VUS!Likely benign!
Benign!
In silico !predictions !
= !No insight!
Why? How? And?
ü improved classification of variants!ü improved consequence assessment!ü makes precision medicine feasible!ü provides risk estimates!
Orders
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