Exome Sequencing

Exome sequencing is one of the cost-effective substitute to whole genome sequencing by targeting only the protein coding region of the genome accountable for a wide range of known disease-linked variants. As these variants can be responsible for 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’s comprehensive human whole exome sequencing service provides a high quality, affordable and convenient solution to the researcher and also to the clinicians.

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 in link or Pen Drive or Hard Disk.
• For analysis please visit Bioinformatics Services

Turnaround time

5-7 weeks after arrival of your samples and all necessary information. It depends upon data size, scope, technology selected, number of samples and complexity of the project. The TAT is offered expecting no biological or technical difficulties for processing of all project samples.