TY - JOUR
T1 - A SNP panel for identification of DNA and RNA specimens
AU - Yousefi, Soheil
AU - Abbassi-Daloii, Tooba
AU - the Biobank-based Integrative Omics Study (BIOS) Consortium
AU - Kraaijenbrink, Thirsa
AU - Vermaat, Martijn
AU - Mei, Hailiang
AU - Van't Hof, P.
AU - van Iterson, Maarten
AU - Zhernakova, Daria V.
AU - Claringbould, Annique
AU - Franke, Lude
AU - 't Hart, Leen M.
AU - Slieker, Roderick C.
AU - van der Heijden, Amber
AU - de Knijff, Peter
AU - 't Hoen, Peter A.C.
AU - van Meurs, J. B.
AU - Heijmans, B. T.
AU - Boomsma, D. I.
AU - Hottenga, J. J.
AU - Slagboom, P. E.
AU - Suchiman, H. E.D.
AU - van Zwet, E. W.
AU - Pool, R.
AU - van Greevenbroek, M. M.
AU - Stehouwer, C. D.
AU - van der Kallen, C. J.
AU - Schalkwijk, C. G.
AU - Wijmenga, C.
AU - Zhernakova, A.
AU - Tigchelaar, E. F.
AU - van Heemst, D.
AU - Veldink, J. H.
AU - van Duijn, C. M.
AU - Hofman, B. A.
AU - Uitterlinden, A. G.
AU - Jhamai, P. M.
AU - Verbiest, M.
AU - van der Breggen, R.
AU - van Rooij, J.
AU - Vermaat, M.
AU - Isaacs, A.
N1 - Funding Information:
This work was performed within the framework of the Biobank-Based Integrative Omics Studies (BIOS) Consortium and the GoNL Project which are funded by BBMRI-NL, a research infrastructure financed by the Netherlands Organization for Scientific Research (NWO project 184.021.007).
Publisher Copyright:
© 2018 The Author(s).
PY - 2018/1/25
Y1 - 2018/1/25
N2 - Background: SNP panels that uniquely identify an individual are useful for genetic and forensic research. Previously recommended SNP panels are based on DNA profiles and mostly contain intragenic SNPs. With the increasing interest in RNA expression profiles, we aimed for establishing a SNP panel for both DNA and RNA-based genotyping. Results: To determine a small set of SNPs with maximally discriminative power, genotype calls were obtained from DNA and blood-derived RNA sequencing data belonging to healthy, geographically dispersed, Dutch individuals. SNPs were selected based on different criteria like genotype call rate, minor allele frequency, Hardy-Weinberg equilibrium and linkage disequilibrium. A panel of 50 SNPs was sufficient to identify an individual uniquely: the probability of identity was 6.9×10-20 when assuming no family relations and 1.2×10-10 when accounting for the presence of full sibs. The ability of the SNP panel to uniquely identify individuals on DNA and RNA level was validated in an independent population dataset. The panel is applicable to individuals from European descent, with slightly lower power in non-Europeans. Whereas most of the genes containing the 50 SNPs are expressed in various tissues, our SNP panel needs optimization for other tissues than blood. Conclusions: This first DNA/RNA SNP panel will be useful to identify sample mix-ups in biomedical research and for assigning DNA and RNA stains in crime scenes to unique individuals.
AB - Background: SNP panels that uniquely identify an individual are useful for genetic and forensic research. Previously recommended SNP panels are based on DNA profiles and mostly contain intragenic SNPs. With the increasing interest in RNA expression profiles, we aimed for establishing a SNP panel for both DNA and RNA-based genotyping. Results: To determine a small set of SNPs with maximally discriminative power, genotype calls were obtained from DNA and blood-derived RNA sequencing data belonging to healthy, geographically dispersed, Dutch individuals. SNPs were selected based on different criteria like genotype call rate, minor allele frequency, Hardy-Weinberg equilibrium and linkage disequilibrium. A panel of 50 SNPs was sufficient to identify an individual uniquely: the probability of identity was 6.9×10-20 when assuming no family relations and 1.2×10-10 when accounting for the presence of full sibs. The ability of the SNP panel to uniquely identify individuals on DNA and RNA level was validated in an independent population dataset. The panel is applicable to individuals from European descent, with slightly lower power in non-Europeans. Whereas most of the genes containing the 50 SNPs are expressed in various tissues, our SNP panel needs optimization for other tissues than blood. Conclusions: This first DNA/RNA SNP panel will be useful to identify sample mix-ups in biomedical research and for assigning DNA and RNA stains in crime scenes to unique individuals.
UR - http://www.scopus.com/inward/record.url?scp=85041448036&partnerID=8YFLogxK
U2 - 10.1186/s12864-018-4482-7
DO - 10.1186/s12864-018-4482-7
M3 - Article
C2 - 29370748
AN - SCOPUS:85041448036
SN - 1471-2164
VL - 19
JO - BMC Genomics
JF - BMC Genomics
IS - 1
M1 - 90
ER -
