human-geneticsMapping and Variance Analysis service

Draw conclusions from identified mutations in your sample

Studying mutations

Accurate identification of single-nucleotide polymorphisms (SNPs), insertions/deletions (Indels) and copy number variants (CNVs) is based on unambiguous mapping data. We deliver you with variant analysis service including high quality mapping from short and long read data and confidently summarizing the detection of Indels, point mutations or CNVs of your sample, reported in variant calling format (VCF). We annotate the findings against databases and further evaluate the pathogenicity of found genetic variants.

Send your data for mapping and variance analysis, we analyse:

  • Targeted (re)-sequencing data
  • Amplicon data
  • Whole-exome data
  • Whole-genome data
  • Whole-transcriptome data
  • Affymetrix SNP Array data

We offer you:

  • Quality check and preprocessing of FASTA/FASTQ files (454/Illumina)
  • Mapping of data against known references with subsequent mapping report
  • Variant calling using multiple callers
  • Summary of results in variant caller files (VCF)
  • Identification of homozygote/heterozygote variants
  • Variant annotation and classification to known references
  • Pathogenicity prediction of genetic variants

Do you need further information or an individual quote?