Wednesday, March 26, 2014

Beware of recreational WGS

Clinical Interpretation and Implications of Whole-Genome Sequencing

If some weeks ago I explained the false advertisement case on nutrigenomics, now from JAMA a new alert appears on whole genome sequencing.
Depending on sequencing platform, a median of 10% (Illumina Inc; range, 5%-34%) to 19% (Complete Genomics Inc; range, 18%-21%) of genes associated with inherited disease and a median of 9% (Illumina Inc; range, 2%-27%) to 17% (Complete Genomics Inc; range, 17%-19%) of  ACMG-reportable genes were not covered at a minimum threshold for genetic variant discovery
As far as this is the first time that such differences are reported between two alternative sequencers over the same sample, new uncertainties arise on the value of recreational genomics.


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