Why?
This health check is about controlling that your lab, sequencer, and bioinformatics perform correctly. It is a free technical quality assessment, a concordance analysis, akin to the EMQN, GenQA external quality assessments (or CAP proficiency testing). Now you can run it as a lab-internal check without stress. Be ready for accreditation, be confident, quality is no accident.
How?
For this free health check you will first of all need a reference sample to sequence. Once you have run the sequence and passed the raw data (FASTQ) through the bioinformatic analysis (secondary analysis) for alignment and variant calling, you will have a VCF file at hand.
You will also need to declare your region of interest, which is done with the help of the BED file describing your kit. We will also ask you for the genome build you are using (GRCh37 / hg19 or GRCh38 / hg38). In summary:
- Reference sample sequenced
- Standard VCF file
- BED file (max size: Exome; no WGS)
What?
This free test allows you to use the most common and highly valued Genome in a Bottle (NIST / Coriell) germline samples (v.4.2.1), both for genome build 37 and 38:
- NA12878 / HG001
- NA24385 / HG002
- NA24149 / HG003
- NA24143 / HG004
- NA24631 / HG005
- NA24694 / HG006
- NA24695 / HG007
In addition we have added some commercial somatic samples. However, we cannot guarantee the precise content as it might change over time for different lots and is not always comprehensively documented:
- Horizon Discovery HD728 Tru-Q 1
- Horizon Discovery HD827 OncoSpan
- Horizon Discovery HD829 Myeloid
- Thermo Fisher AcroMetrix™ Oncology Hot-spot
Get started!
Register your lab, enter your sequencer(s) and used kit(s), obtain credentials to your email (or spam folder), login according to instructions, then validate. Use for free during 14 days. Go health check!
