molecular genetic analyses

Analysis of Copy Number Variants / Loss Of Heterozygosity

General Information

The data from genome wide high resolution SNP arrays is analyzed for DNA copy number variants and for loss of heterozygosity (LOH). We compare this data with data derived from well known reference groups for chromosomal aberrations >200kb. Any resulting detected regions are annotated with known SNPs and genes possibly affected by this aberration.

Copy Number Variants: excerpt from karyogram

Service Range

  • Computation of quality scores
  • Genotype calling
  • Detection of copy number variants, 
    chromosomal aberrations

Data Delivery

  • Research report
  • List of regions with detected chromosomal aberrations
  • List of genes and known SNPs within detected regions
  • Genomewide chromosome view indicating aberrations
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