Geneticist Course

Lesson 1 • Gene Expression and the Central Dogma

Explains transcription, translation, and RNA processing. Connects molecular flow of information to phenotypic outcomes central to genetic analysis.

Lesson 2 • DNA Structure and Organization

Covers nucleotide chemistry, double-helix architecture, and chromatin packaging. Establishes the molecular basis required for all subsequent gene analysis topics.

Lesson 3 • Cell Division and the Cell Cycle

Examines mitosis, checkpoints, and DNA replication fidelity. Grounds understanding of mutation origins and cancer genetics introduced in later chapters.

Lesson 4 • Chromosomal Basis of Heredity

Covers meiosis, linkage, recombination, and chromosomal abnormalities. Links chromosome behaviour to inheritance patterns observed in families and populations.

Lesson 1 • Polymerase Chain Reaction Methods

Covers PCR principles, primer design, and variant protocols including RT-PCR and qPCR. Enables amplification-based detection and quantification of target sequences.

Lesson 2 • Nucleic Acid Extraction and Quantification

Teaches DNA and RNA isolation protocols, quality assessment, and storage. Provides the sample preparation skills needed before any downstream molecular analysis.

Lesson 3 • Cloning and Recombinant DNA

Covers restriction enzymes, ligation, vector selection, and bacterial transformation. Establishes recombinant DNA skills foundational to gene editing and expression studies.

Lesson 4 • Gel Electrophoresis and Blotting

Explains agarose and polyacrylamide gel separation, Southern, Northern, and Western blotting. Connects fragment sizing and hybridisation to genotyping and expression studies.

Lesson 1 • RNA Sequencing and Transcriptomics

Teaches RNA-seq library preparation, strand-specific protocols, and differential expression concepts. Extends sequencing skills to transcriptome-level gene activity measurement.

Lesson 2 • Whole-Genome and Targeted Sequencing

Compares whole-genome, whole-exome, and targeted panel approaches. Guides selection of sequencing scope based on research or clinical objectives.

Lesson 3 • Sequencing Data Output and File Formats

Explains FASTQ, BAM, VCF, and BED file structures and quality metrics. Prepares students to handle raw sequencing outputs before bioinformatics processing.

Lesson 4 • Library Preparation and Quality Control

Covers DNA fragmentation, adapter ligation, size selection, and library QC metrics. Ensures students produce sequencing-ready libraries that meet quality thresholds.

Lesson 1 • Variant Calling and Annotation

Teaches SNP and indel calling, structural variant detection, and functional annotation. Translates aligned reads into biologically interpretable variant lists.

Lesson 2 • Read Alignment and Mapping

Covers short-read aligners, reference genome selection, and alignment quality metrics. Produces analysis-ready BAM files from raw sequencing reads.

Lesson 3 • Pathway and Functional Enrichment Analysis

Covers gene ontology, pathway enrichment, and network analysis methods. Connects variant and expression lists to biological processes and disease mechanisms.

Lesson 4 • Genome Browsers and Databases

Explores UCSC Genome Browser, Ensembl, and major variant databases. Enables efficient retrieval and visualisation of genomic context for identified variants.

Lesson 1 • Epigenetics and Gene Regulation in Disease

Teaches DNA methylation, histone modification, and imprinting disorders. Links epigenetic dysregulation to disease phenotypes beyond sequence-level mutations.

Lesson 2 • Monogenic Disorders and Mutation Types

Examines autosomal dominant, recessive, and X-linked conditions alongside mutation classes. Establishes the genotype-phenotype framework for clinical variant assessment.

Lesson 3 • Complex and Multifactorial Diseases

Covers polygenic risk, gene-environment interaction, and common disease architecture. Prepares students to interpret GWAS findings and population-level risk estimates.

Lesson 4 • Cancer Genetics and Somatic Mutation

Covers oncogenes, tumour suppressors, somatic mutation landscapes, and clonal evolution. Connects germline predisposition to somatic driver events in cancer development.

Lesson 1 • Reporting and Reclassification Practices

Covers variant report structure, uncertainty communication, and reclassification triggers. Prepares students to produce clear, actionable reports for clinical and research use.

Lesson 2 • Variant Classification Frameworks

Teaches the five-tier classification system and evidence categories used in clinical genetics. Provides the structured decision-making process for all subsequent variant assessments.

Lesson 3 • Segregation and Co-occurrence Analysis

Teaches pedigree-based segregation analysis and variant co-occurrence statistics. Adds family-level evidence to strengthen or weaken pathogenicity classifications.

Lesson 4 • Population Frequency and Allele Data

Covers allele frequency thresholds, population stratification, and database limitations. Ensures accurate use of frequency data as evidence in variant classification.

Lesson 1 • Reproductive Options and Genetic Risk

Examines preconception counselling, prenatal diagnosis options, and assisted reproduction. Equips students to guide families through reproductive decision-making with genetic risk.

Lesson 2 • Pedigree Construction and Risk Assessment

Teaches three-generation pedigree drawing, symbol standards, and empiric risk calculation. Provides the family history tool central to all clinical genetic evaluations.

Lesson 3 • Informed Consent in Genetic Testing

Covers consent elements, incidental findings disclosure, and autonomy principles. Ensures students can obtain ethically sound consent before any genetic test.

Lesson 4 • Genetic Testing Strategies

Compares diagnostic, predictive, carrier, and prenatal testing approaches. Guides selection of the appropriate testing strategy for each clinical scenario.

Lesson 1 • Population Genomics and Evolutionary Analysis

Covers linkage disequilibrium, selection signatures, admixture, and demographic inference. Provides tools to interpret human genetic diversity and evolutionary history.

Lesson 2 • Multi-Omics Data Integration

Teaches integration of genomic, transcriptomic, proteomic, and epigenomic datasets. Enables systems-level interpretation of complex biological and disease phenotypes.

Lesson 3 • CRISPR-Cas9 and Genome Editing

Covers guide RNA design, delivery systems, off-target assessment, and editing verification. Enables students to plan and execute precise genome editing experiments.

Lesson 4 • Research Design and Grant Writing

Teaches hypothesis formulation, experimental controls, power calculation, and grant structure. Prepares students to design rigorous, fundable genomic research projects.