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Genomics

Whole Exome Sequencing

The coding genome in a single test.

Whole exome sequencing of coding regions with annotation, variant filtering and an interpretation report for rare disease and clinical genetics.

10–15 business days
Illustration — Whole Exome Sequencing

Overview

Whole exome sequencing targets all coding regions of the genome — about 1–2% of DNA, covering nearly 20,000 genes. It is the reference approach for variants behind rare diseases, Mendelian syndromes and complex clinical presentations.

Each sample is prepared with exome capture, sequenced paired-end and aligned to GRCh38. Variants are annotated (population frequency, pathogenicity, conservation) and filtered against the phenotype supplied by the requester.

Method & technologies

  • Exome capture
  • Illumina paired-end 2×150 bp
  • GRCh38 alignment / GATK
  • VEP + ClinVar annotation

Deliverables

  • Signed PDF report
  • Annotated VCF
  • Prioritized candidate variants
  • QC report (coverage, depth)

Related analyses

Illustration — Whole Genome Sequencing

Genomics

Whole Genome Sequencing

High-coverage WGS for structural variants, non-coding regions and large-scale research projects.

Discover
Turnaround
15–25 business days