Constitutional variants
Identify, prioritise and interpret germline variants in relation to phenotype and project context.
- SNVs & indels
- CNVs & structural variants where supported
- Annotation & prioritisation
- Interpretation & reporting
Bioinformatics services
Analysis tailored to your data and scientific question
From analysis planning to result interpretation, UbSeq supports genomics, transcriptomics and microbiology projects with a strategy adapted to the data, scientific context and expected level of reporting.
Somatic variants
Characterise acquired genomic alterations in oncology research and other somatic contexts.
- Tumour–normal or tumour-only depending on the project
- Somatic SNVs & indels
- CNVs & structural alterations where supported
- Annotation & prioritisation
Nutrigenetics & nutritional response
Explore associations between genetic variants, nutritional phenotypes and biological context while retaining the available strength of evidence.
- Variant annotation
- Genotype–phenotype associations
- Population context
- Evidence-strength review
Expression, splicing & biological pathways
Analyse expression changes and transcriptomic events to connect RNA-seq data with biological context.
- Differential expression
- Expression outliers
- Splicing & isoforms
- Functional enrichment & GSEA
Genomic typing & surveillance
Characterise and compare microbial genomes for research, characterisation and surveillance projects.
- Assembly & annotation
- Typing, phylogeny & cgMLST
- Antimicrobial resistance & virulence
- Pangenome & genomic distances
Targeted & shotgun metagenomics
Characterise the composition, diversity and functional potential of microbial communities from sequencing data.
- 16S / ITS amplicons
- Taxonomic profiling
- Diversity & differential abundance
- Functions, resistome & MAGs where supported
Adventitious Agent NGS Investigation
Search for and investigate unexpected microbial or viral signals by combining taxonomic specificity, coverage, assembly evidence and controls.
- Taxonomic classification
- Read coverage & distribution
- Assembly support
- Control comparison
Review, qualify and document bioinformatics analyses
Independent review, pipeline qualification, non-regression testing, change traceability and preparation of bioinformatics evidence for quality or accreditation processes.
Need something else?
Share your scientific question
UbSeq can assess feasibility and propose a scope suited to the data and expected results.