Bench simulation

Advanced interactive genomics laboratory suite

Practise the full NHS genomics workflow (WGS, cancer genomics, pharmacogenomics, ISO 15189 compliance, UKAS accreditation prep) across 16 NHS-aligned modules.

Advanced Interactive Genomics Laboratory Suite is available to premium subscribers and trial users.

LIMS

Advanced genomics & molecular pathology LIMS

Next-generation laboratory information management for genomics validation, NGS analysis and molecular diagnostics.

Advanced Genomics LIMS System is available to premium subscribers and trial users.

NGS platforms

Sequencing methods

Comprehensive guide to NGS platforms, library preparation methods and sequencing chemistry principles.

Next-Generation Sequencing Workflow Guide

Sample Preparation

DNA/RNA extraction and quality assessment
Fragment size distribution analysis
Concentration determination
Sample integrity evaluation

Quality Control

Pre-sequencing QC metrics
Library quantification
Cluster density optimisation
Run performance monitoring

Variant interpretation

Variant analysis & interpretation

Guidelines for variant calling, filtration, annotation, classification and clinical reporting: the core Band 6+ molecular pathology competency.

Pharmacogenomics Guide

Pharmacogenomics studies how genetic variations affect drug responses, enabling personalised medicine approaches.

Drug Metabolism

Cytochrome P450 enzymes
Phase I and Phase II metabolism
Drug transporter proteins
Pharmacokinetic variations

Adverse Reactions

HLA-associated drug hypersensitivity
Serious skin reactions
Drug-induced liver injury
Cardiovascular complications

Pipelines

Bioinformatics tools

Overview of essential bioinformatics pipelines and tools for genomic data analysis.

Clinical Genomics Interpretation

ACMG/AMP Five-Tier Classification

Pathogenic (P)High confidence

Likely Pathogenic (LP)Moderate confidence

VUSUncertain significance

Likely Benign (LB)Probably not pathogenic

Benign (B)Not pathogenic

Evidence Criteria

Population frequency data
Functional studies
Segregation analysis
De novo occurrence
Computational predictions
Conservation analysis

UK laboratories apply these criteria using the ACGS Best Practice Guidelines for Variant Classification in Rare Disease (2026, version 3).

Variant landscapes

Genomics data visualisation

Interactive visualisations of genomic data including variant distributions, pathogenicity scores and sequence coverage.

Genomic Variant Distribution

Illustrative visualisation of variant types and their relative frequencies across a genome. The counts are approximate teaching values, not results from a real sample.

Variant Type Distribution

Mutation Signature

Analysis Insight

Single nucleotide variants (SNVs) typically comprise the majority of variants in a genome, while larger structural variants and copy number variants are less common but often have greater functional impact. Specific mutation signatures can suggest particular mutational processes or exposures, aiding in diagnostic assessment.

Foundations

Genomics quick guide

Essential knowledge areas for genomics, from fundamental concepts to advanced molecular techniques.

Genomics Fundamentals

Core concepts in genomics that form the foundation for understanding sequencing technologies, data analysis, and clinical applications in molecular pathology.

Genomic Structure & Organisation

Genome size and complexity across species
Chromosomal organisation of genomic material
Gene structure (exons, introns, regulatory regions)
Repetitive elements and their significance
Pseudogenes and their challenges in analysis
Structural genomic elements (centromeres, telomeres)

Genomic Variation

SNVs and small indels
Copy number variations
Structural variations (inversions, translocations)
Repeat expansions and contractions
Mitochondrial variation
Population genetics and allele frequencies
Linkage disequilibrium and haplotype blocks

Central Dogma & Genetic Mechanisms

DNA replication: Semi-conservative model, replication machinery
Transcription: RNA polymerases, promoters, enhancers, silencers
RNA processing: Splicing, alternative splicing patterns, RNA editing
Translation: Ribosomal function, genetic code, codon usage
Epigenetics: DNA methylation, histone modifications, chromatin structure

Inheritance Patterns

Mendelian inheritance: Autosomal dominant, autosomal recessive, X-linked
Non-Mendelian inheritance: Mitochondrial, imprinting, mosaicism
Penetrance and expressivity: Variable expression of genetic traits
Compound heterozygosity: Two different mutations in the same gene
Digenic inheritance: Mutations in two different genes causing disease

Key References

Current reference genome: GRCh38/hg38 (released in 2013). Essential genomic databases include NCBI RefSeq, Ensembl, UCSC Genome Browser, gnomAD, dbSNP, and ClinVar. Familiarity with these resources and their applications is fundamental for genomic analysis and interpretation in clinical settings.

Sources and guidance

This hub's content aligns with the UK's professional and regulatory references for the specialty: