Genomics
Reading the genome end to end — from sequencing and assembly through variant discovery, annotation and clinical-grade interpretation.
What this area is.
Genomics is the foundation of everything we do: turning raw sequence into an accurate, annotated picture of an individual or population genome. We run whole-genome and whole-exome pipelines that detect SNVs, indels, copy-number and structural variants with reproducible, benchmarked workflows.
Every call is placed in context — population frequency from gnomAD, deleteriousness from CADD, and clinical significance via ACMG criteria — so the output is not just a variant list but an interpretable result.
Tools & technologies
What we do.
Core methods we apply in genomics.
Whole-genome & exome
WGS and WES library design, alignment and best-practice processing for germline and somatic studies.
Variant discovery
SNV, indel, CNV and structural-variant calling with GATK, DeepVariant and dedicated SV callers.
Annotation & filtering
Functional annotation, gnomAD frequencies, CADD scoring and ACMG-aware filtering.
Structural variation
Breakpoint detection, fusions and large rearrangements visualised on Circos and genome browsers.
Quality & reproducibility
Containerised, version-pinned pipelines with full QC trails from FASTQ to report.
Population genomics
Cohort-scale joint genotyping, ancestry and allele-frequency analysis.
From data to insight.
How a genomics project flows end to end.
Sequencing
WGS / WES reads
QC & trim
FastQC, adapter removal
Alignment
BWA / minimap2 to reference
Variant calling
GATK / DeepVariant
Annotation
gnomAD · CADD · ACMG
Interpretation
Reportable, ranked variants
Publication-grade figures.
Interactive, live-rendered visualisations used in genomics.
Where we go deep.
Clinical genome interpretation
End-to-end pipelines that produce ACMG-classified, reportable variants.
Structural & copy-number variation
Resolving the large events short reads often miss.
Reference & pangenome readiness
Workflows that move beyond a single linear reference.
Questions we answer.
A few of the things people ask about genomics — and our short answers. Ask CGB-AI for more.
How accurate is variant calling?
With benchmarked pipelines and truth sets (e.g. GIAB), SNV/indel calling exceeds 99% F-score in callable regions; structural variants need orthogonal callers and, ideally, long reads.
WGS or WES?
WES is cost-effective for coding-variant discovery; WGS adds non-coding, structural and more uniform coverage — we help choose per study.
Publications in Genomics.
Drawn from our full record of 173 papers, filtered to this area.
Start a genomics project.
Tell us the biological question and the data you have — we will map out an approach.