Genomics
Genomics is the study of the complete genetic sequence of organisms, resolving DNA structure from end to end. We build and run pipelines for genome assembly, variant calling, and clinical annotation. By mapping variants to global databases, we identify the genetic underpinnings of disease and evolution.
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 170 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.
