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.