Sample Identification (ID) analysis

Sample Identification (ID) analysis service

TAMM has developed an ID panel of 54 single nucleotide polymorphisms together with Genomics
at the Science for Laboratory in Stockholm, for sample identification in
different DNA analysis workflows.

The panel, which is designed especially for analyzing exome, transcriptome and whole
genome sequenced samples, is used as an independent quality control step
ensuring that data generated corresponds to the originally submitted sample.

The markers were selected based upon the following criteria:

Bi- allelic variations, excluding A-T and G-C transversions
• Synonymous variants.
• Variants informative in the Swedish / Scandinavian population
• Distribution over many different chromosomes
• Analyzed successfully in HapMap, CEU population
• Minor allele frequency >0.3 (CEU population)
• At least 140 bp from exon boundaries
• Located towards the 3′ end in coding part of transcript
• Avoiding regions associated with copy number variations
• Not in repetitive sequences
• Not in MHC region
• In regions with high sequencing coverage
• In transcripts expressed in many tissues
• Markers for gender identification (ZFXY gene)

This independent control of the correct sample identity is of utmost importance. Until now, TAMM has analyzed 17004 samples (December 2022), from laboratories both nationally and internationally. A number of sample admixtures have been discovered and correct identities have been recovered based on our data, showing the importance of this analysis.

Contact person:
Ann-Charlotte Rönn, PhD (Project coordinator)
Tel: +46 8 1238 3662