Sample Identification (ID) analysis

Sample Identification (ID) analysis service

MAF has developed an ID panel for sample identification in different DNA analysis workflows. This has been done together with Genomics at the Science for Life Laboratory in Stockholm.

The panel consists of 54 single nucleotide polymorphisms. It is used as a quality control step ensuring that data generated corresponds to the originally submitted sample. It is especially designed for analyzing exome, transcriptome, and whole genome sequenced samples.

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, MAF has analyzed 11540 samples (December 2020), from laboratories both nationally and internationally. A number of sample admixtures have been discovered and correct identities have been recovered based on MAF data, showing the importance of this analysis.

Contact person:
Ann-Charlotte Rönn, PhD (Project coordinator)
Tel: +46 8 5858 3662
email: Ann-Charlotte.Ronn@ki.se