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Exome Analysis

Exome Analysis - genetic variations easy to interpret

We analyse your exome sequencing data youd you benefit from a high quality variant detection

The Eurofins Genomics exome pipeline is highly scalable, allowing for low turn-around times, even with higher amount of samples. Receive accurate and annotated InDel and SNP detection reports in VCF (Variant Calling Format) format.

Our bioinformatic pipeline includes

  • QC analysis of read data (FASTQC)
  • Mapping of reads to human genome reference sequence using BWA-MEM
  • SNP and InDel detection based on the mapping results (VCF format)
  • Annotation of all variants, comparison to known SNP lists (e.g. 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,BAI)
    • Variant files with annotation (VCF)
    • Targeted enrichment statistics (tab-delimited table)
  • Free interactive visualization in online genome browser for a 3-month period (may be extended for additional costs).

 

For an individual quote or additional information, contact us.