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Exome Analysis

Analyse you exome data to obtain high qualiy variants

Identifying exactly where reads map is crucial for any subsequent analysis such as SNP detection or expression profiling studies.

Eurofins GenomicsĀ mapping analysis from experts means, we provide you with an accurate and annotated GATK-based InDel and SNP detection reported in VCF (Variant Calling Format) format.

Our bioinformatic services offer

  • QC analysis of read data
  • Mapping of reads to current human genome reference sequence using BWA
  • SNP and InDel detection based on the mapping results (based on GATK pipeline including InDel Realignment und Base Recalibration for improved variant calling)
  • Annotation of all variants, comparison to known SNPs (dbSNP)
  • Online genome browser for interactive visualization of read mapping and variants
  • Target coverage statistics

Our deliverables at a glance

  • Direct download of result data
    • FASTQ files
    • Mapping files (BAM)
    • Variant files with annotation (VCF)
    • Coverage table
  • Plus free interactive visualization in online genome browser for a 3-month period (may be extended for additional costs).

Interested in an individual quote or need additional information? Just contact us!