Exome sequencing is a cost-effective alternative to whole genome sequencing, targeting the protein coding region of the genome accountable for a wide range of known disease-associated variants. As these variants can contribute to both Mendelian and common polygenic diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic.

Eurofins Genomics' comprehensive human whole exome sequencing service provides researchers with a high-quality, affordable and convenient solution for identifying clinically and biologically relevant genetic variants.

Methodology

Sample requirement

  • Submit high quality gDNA of minimum of 1-2ug in nuclease-free water or TE buffer having OD260/280 of 1.8-2.0.

Sequencing parameters

  • Library preparation will be carried out following the Agilent SureSelect Library prep protocol.
  • Library validation will be carried out using Agilent Tape station 4200 and Qubit Fluorometer 3.0.
  • Paired end libraries will be sequenced on Illumina platform with 2 X 150bp chemistry.
  • The effective sequencing depth will be above 50x.

Deliverables

  • Raw data will be available for download as a compressed archive of FASTQ files for each sample.
  • Comprehensive compiled report and data set will be shared through a secured file-sharing platform.

Turnaround time

5-7 weeks from receipt of samples and all required project information. Turnaround time may vary depending on project scope, data volume, technology selected, number of samples, and overall project complexity. The estimated timeline assumes no unforeseen biological or technical challenges during sample processing.

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