Singleton Exome Analysis
Comprehensive exome analysis for an individual patient, covering coding regions across the exome.
Request this analysis→Genomics
Whole Exome Sequencing Analysis
Bioinformatics analysis of exome sequencing data, from raw FASTQ files to an annotated, classified variant report.
DNA to variant
01 / 04 · SchematicExome capture
Coding exons are pulled out of the genome for sequencing.
- Coding genes
- Splice junctions
- Variant detection
- Annotation
- Interpretation
Whole exome sequencing reads the protein-coding regions of the genome and their splice junctions, so potentially disease-associated variants across many genes can be assessed in one analysis.
8 stages · select one
Our service
Complete analysis of whole exome sequencing data, raw FASTQ through to an annotated variant report. Variant classification is computational and needs review by qualified professionals. We work with exome data from standard next-generation sequencing workflows and different capture designs, subject to data quality and project requirements.
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Step 1 of 8
FASTQ
Raw reads as they come off the sequencer, with the capture design and reference build you used. BAM, CRAM or VCF can be the starting point instead.
Step 2 of 8
Quality
Read quality and coverage across the captured regions are checked first, because a region that was not covered cannot be called either way.
Step 3 of 8
Alignment
Reads are mapped to the reference genome and duplicates marked, so each position can be read with its depth of support.
Step 4 of 8
Variant calling
Differences from the reference are called across the coding regions the capture covered: substitutions, insertions and deletions.
Step 5 of 8
Annotation
Each variant is annotated against public resources: the gene and transcript it falls in, its predicted consequence, and how common it is in reference populations.
Step 6 of 8
Classification
Variants are classified computationally against published criteria. Classification is computational evidence and needs review by qualified professionals.
Step 7 of 8
Prioritisation
The annotated list is narrowed against the phenotype or research question you supplied, and the inheritance pattern where parental samples are included.
Step 8 of 8
Report
A prioritised, annotated variant list with its quality summary and a statement of what the analysis could not assess.
Select another step to see the next.
Test types
Whose data is analysed together changes what can be said about inheritance.
Duo Exome Analysis
The patient analysed together with one parent, to help interpret how candidate variants were inherited.
Request this analysis→Trio Exome Analysis
The patient analysed together with both parents, to support inheritance analysis and variant interpretation.
Request this analysis→From Inputs to Insights
Research Inputs
- FASTQ files
- BAM / CRAM
- VCF
- Capture kit / target regions
- Reference genome build
- Phenotype or research question (no identifiers)
- Parental samples for duo / trio
Not sure what files you have? Our team can review the available data and confirm what can be analysed.
Scientific Analysis
QC & alignment
Variant calling
Annotation & classification
Research Outputs
- QC summary
- Processed alignments
- Annotated variant calls
- Prioritised variant list
- Inheritance analysis (duo / trio)
- Interpreted report
Applications
Potential applications: an analysis can't guarantee that a causative variant will be found.
Complex or undiagnosed conditions
Investigating possible genetic causes when earlier testing hasn't provided an answer.
Unusual or overlapping presentations
Useful when more than one genetic condition could explain a phenotype.
Developmental & neurodevelopmental conditions
Supporting investigation of possible inherited causes.
Negative targeted testing
Extending investigation across coding genes after a targeted approach was unrevealing.
Family-based interpretation
Parental samples help interpret how variants were inherited.
Research follow-up
Findings can help plan follow-up in research settings. Any clinical use is outside this service and rests with qualified professionals.
Scope & limitations
We analyse sequencing data generated elsewhere; we do not operate a sequencing laboratory. This is a research service, not a diagnostic test, and interpretation depends on the quality and coverage of the data supplied.
Have sequencing data to analyse?
From raw sequencing files to annotated variant results, our genomics workflows are tailored to your study and data.