In high throughput clinical
genetics environments it is crucial to keep track of samples and have methods
to double check that results from the lab are correct and belongs to the
original sample. There are such methods available commercially but are expensive
and based in genotyping methodology so extra processing is needed. We have
developed a new method for double checking sample integrity during the NGS
pipeline. We have created a plasmid that contains the sequences for a region of
a distal 3'UTR captured by the TSO probes that is not used in clinical reports
and added synthetic unique barcodes in the middle of the sequence. Plasmids are
added to the DNA before starting the NGS pipeline and the unique part of the
sequences of the plasmids captured by the TSO sequencing allows us to obtain
the ID of the sample and check the identity. We have create a software and test
data for automatic deployment of this procedure in any exome capture sequencing
facility
