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HMP Research Precision Medicine Hub

Genomics

Whole Genome Sequencing

All the information, including non-coding regions.

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

15–25 business days
Illustration — Whole Genome Sequencing

Overview

Whole genome sequencing covers coding and non-coding regions, enabling detection of structural variants, copy-number changes and deep variants in regulatory regions.

It is recommended when WES is inconclusive or when a research project needs an exhaustive view of the genome.

Method & technologies

  • Illumina NovaSeq sequencing
  • 30× mean coverage
  • Germline and somatic variant calling
  • CNV and structural variant detection

Deliverables

  • Interpretation PDF report
  • Germline and somatic VCF
  • Aligned BAM/CRAM
  • Full QC report

Related analyses

Illustration — Whole Exome Sequencing

Genomics

Whole Exome Sequencing

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

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Turnaround
10–15 business days