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Whole Genome Sequencing (WGS) Service

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Whole Genome Sequencing (WGS) Service

 
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Whole Genome Sequencing (WGS) Service

A high quality, robust Next Generation Sequencing (NGS) solution built on Roche’s platform. Almac’s wet lab workflow generates comprehensive WGS data from blood and FFPE.

The platform covers coding and non-coding regions with readily interpretable raw sequencing data for use in biomarker discovery and retrospective clinical investigation.

QC guarantee of 30X / 80X mean target coverage across sample cohort ensures comprehensive downstream analysis and data interpretation.

For Research Use Only

Robust Almac WGS Data Generation Protocol


Technical Specification and Performance Validation:

Almac analytical validation data confirms the highly accurate, repeatable and reproducible performance of the WGS service.

For full technical specification & further validation information download the fact sheet.

 

Download Fact Sheet

Benefits:

  • QC guarantee of 30X / 80X mean target coverage across sample cohort ensures comprehensive downstream analysis and data interpretation
  • Protocol optimised for blood and FFPE samples
  • Interactive QC report enables rapid and comprehensive sample quality interrogation across the cohort
  • Raw Sequence data delivered in FASTQ format, compatible with the majority of bioinformatics pipelines
  • Germline / Somatic variant discovery service: filtered and annotated germline variants delivered as standard VCF files compatible with majority of downstream interpretation tools

Almac provides a germline / somatic variant discovery service, including standard variant QC filtering and annotation steps.

Outputs:

  • Raw sequence in FASTQ format
  • Interactive HTML sequence/alignment QC report
  • Germline / Somatic variant calls delivered as VCF files compatible with majority of downstream interpretation tools- Raw and Filtered + annotated
  • Custom downstream variant analysis options are also offered.
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