Somatically Acquired Structural Genetic Differences; a Longitudinal Study of Elderly Danish Twins

Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested that they may accumulate in elderly individuals. To further explore the presence and the age-related acquisition of somatic structural variants in the human genome, we investigated CNVs acquired over a period of 10 years in 86 elderly Danish twins as well as CNV discordances between co-twins of 18 monozygotic twin pairs. Furthermore, the presence of mosaic structural variants was explored. 86 elderly Danish twins from 18 monozygotic and 25 dizygotic twin pairs were sampled twice 10 years apart. After genotyping and calling of structural variants (both non-mosaic and mosaic), paired samples (i.e. samples from monozygotic twins or longitudinal samples from the same individual) were compared and structural variation differences were identified. Genotyping was performed on two different arrays (Illumina HumanOmniExpress and HumanOmni2.5M) but only the 716,299 overlapping SNPs were included in the analysis. 6 samples have no raw data due to server breakdown and data loss: GSM1985680, GSM1985684, GSM1985687, GSM1985703, GSM1985710, and GSM1985718