Genome Analysis Service

Genomics

Formal genomics services for variant-heavy studies, cohort programmes, cancer-focused investigations, and assembly-oriented research delivery.

Explore Workflows

Analytical Scope

Genomics services designed for complex studies, formal review, and large analytical footprints

Our genomics offering spans upstream sequence processing and selected downstream analysis tracks. The scope below is intentionally high level, with space reserved for future recorded video walkthroughs on each service block.

Variant analysis

Support for germline and somatic variant discovery, annotation, prioritisation, and structured output review.

Cohort-scale studies

Association-oriented and population-scale projects with managed compute capacity and formal project organisation.

Assembly and comparison

Support for de novo assembly, annotation, comparative genomics, and related genome-structure workflows where study design requires them.

Service Portfolio

High-level genomics services currently offered

These genomics modules reflect the main study types currently represented in the offered workflow set. Placeholder panels are intentionally reserved so recorded service videos can be added later.

Variant discovery

Germline variant analysis

Whole-genome, whole-exome, and targeted-sequencing analysis for SNPs, indels, copy-number events, and structural variation with annotation-ready outputs.

Primary inputs: FASTQ or BAM inputs from WGS, WES, or targeted sequencing
Delivery outputs: Variant call sets, annotated variant tables, quality summaries, review-ready reports

Clinical and translational support

Rare disease interpretation

Structured processing and prioritisation for rare disease studies, with support for scoring, ranking, and focused review of candidate findings.

Primary inputs: FASTQ inputs from whole-genome or whole-exome sequencing
Delivery outputs: Ranked candidate variants, interpretation-ready summaries, project-level review artefacts

Cancer genomics

Somatic and integrated cancer analysis

High-level support for tumour-only and matched analyses, including DNA-focused and combined DNA/RNA workflows for somatic investigation.

Primary inputs: FASTQ or BAM inputs from tumour-only or matched study designs
Delivery outputs: Somatic variant summaries, integrated DNA/RNA result sets, reporting-oriented deliverables

Population-scale studies

Cohort and association genomics

Association-ready cohort processing for study-wide quality review, genotype-driven analyses, and structured downstream statistical work.

Primary inputs: VCF, PLINK, or cohort-scale processed genomics data
Delivery outputs: Cohort quality summaries, association-ready files, study-level comparison outputs

Genome structure

Assembly and comparative genomics

Selected assembly, annotation, pangenome, and comparative-genomics services for projects that extend beyond routine variant calling.

Primary inputs: FASTQ, assembled FASTA, contigs, or annotation inputs
Delivery outputs: Assemblies, annotations, alignment summaries, comparative genome artefacts

Genomics

Genomics services designed for complex studies, formal review, and large analytical footprints

Variant analysis

Cohort-scale studies

Assembly and comparison

High-level genomics services currently offered

Germline variant analysis

Germline variant analysis overview

Rare disease interpretation

Rare disease interpretation overview

Somatic and integrated cancer analysis

Somatic analysis overview

Cohort and association genomics

Cohort genomics overview

Assembly and comparative genomics

Assembly and comparative genomics overview