Module Overview

Diagnostic Genetics & Bioinformatics

Module description: This module provides students with knowledge and understanding of genetics in Mendelian and complex diseases with the application of diagnostic tools for studying genetic diversity. There will be an emphasis on bioinformatics and its utility in genetic research of disease.

Module aim: This primary aim of this module is provide students with the knowledge and application of diagnostic tools for studying genetics and diversity.

Module Code

BIOL 4007

ECTS Credits


*Curricular information is subject to change
  1. Gene Mutations and the Genetic modes of Inheritance in monogenic and polygenic disease. Mendelian, mitochondrial and multifactorial disease inheritance. Single nucleotide Polymorphosm (SNP) and Short Tandem Repeat (STR) analysis in genetic variation.
  2. Chromosomal diseases and cytogenetics of (1) structural aberrations Interstitial; microdeletions, Insertions: Inter or Intrachromosomal, Duplications: Direct and inverted, Inversions: Pericentric and paracentric, Translocations: Robertsonian; Reciprocal, Isochromosome; and (2) Numerical aberrations in Autosomes (Downs syndrome; Edwards syndrome; Patau syndrome) and  Sex chromosomes (Turner syndrome; Klinefelter syndrome; TripleX;TetrasomyX; PentasomyX; XXXY syndrome; TripleY syndrome; XYY and XXYY syndrome) and in All chromosomes: Triploidy (69); Tetraploidy (92) and endoreduplication (92); and (3) Complex aberrations such as Marker and extra chromosomes and Mosacism (Tissue effects-diff phenotypic). Cytogenetic Nomenclature and analysis with G-banding,  FISH, CGH microarray; ISCN nomenclature
  3. Epigenetics1) Introduction to epigenetic modifications (DNA modifications, histone modification, chromatin remodelling) and their role in gene regulation. 2) Exploring the relationship between the genome and the epigenome (e.g Epimutations). 3) Epigenetic variation in human health and disease
  4. Bioinformatics and its application in genomics, including 1) using web based bioinformatics tools for next generation sequencing and data visualisation (e.g. Galaxy, Integrated Genomics Viewer (IGV)), 2) Genome-wide association studies and their bioinformatics pipelines.
  5. Workshop schedule

    1. Cytogenetic case studies: (1) clinical referral and patient information (constitutional-phenotypic (eg Downs); Oncology-lab observations-High WBC (eg Leukaemia) (2) Test selection (consitutional or oncology).
    2. Genetic probability case studies through pedigree analysis and Baye’s calculations
    3. SNP and STR Bioinformatics for DNA profiling in genetic disease
    4. Bioinformatics tools for genomic analysis – Part 1
    5. Bioinformatics tools for genomic analysis – Part 2

- Powerpoint with visual aids and animations in lectures and workshops

- Use of clinical genetic case studies with coded patient karyotype and data from local Hospital.

- Use of GWAS case studies

- Guest lectures from Dept of Clinical Genetics, Crumlin Childrens Hospital, and Genomics Medicine Ireland.

Module Content & Assessment
Assessment Breakdown %
Formal Examination50
Other Assessment(s)50