Whole genome sequencing: From sample to report

Select appropriate sample type based on clinical context, such as blood for rare disease, tumor tissue for solid cancer, bone marrow for hematological cancer, or infected tissue for infectious disease.

Release DNA from cells, purify it, and suspend in liquid buffer. The extracted DNA is then stored or prepared for the next steps.

Fragment the DNA into pieces ranging from 150 base pairs to 100,000 base pairs depending on the sequencing technology, preparing it for loading into the sequencing machine.

Load the prepared DNA library into a sequencing machine that reads the order of bases in each fragment, generating thousands of DNA sequence reads stored as text files.

Run the sequencing data through a bioinformatics pipeline to map and align the individual reads back to their original positions in the reference genome.

Perform variant calling to identify differences between the sample sequence and reference genome, then use software to predict the functional effects of each variant identified.

Clinically interpret the identified variants to determine their significance and potential clinical impact, involving discussion between scientists and clinicians.

Compile the interpreted results into a comprehensive genomic report for the clinician to review and discuss with the patient.