Competency information


Use appropriate literature to summarise the role of clinical genetics in personalised healthcare in a written report or oral presentation.


  • The challenges of variant identification, including single-nucleotide polymorphisms (SNPs) and copy number variants (CNVs).
  • Variation databases, e.g. dbSNP, DECIPHER.
  • SNP annotation challenges.
  • SNP resources in the major genome sequence repositories, e.g. Ensembl, UCSC.
  • Feature identification, including SNP analysis and transcription factor binding sites.
  • Missense analysis, e.g. Align GVGD, SIFT, PolyPhen, Panther, PhDSNP, MAPP.
  • Splicing analysis applications, e.g. GeneSplicer, MAxEntScan NNSplice, SSFL, HSF, NetGene2.
  • Classifying phenotype: London Database of Dysmorphology (LDD), Human Phenotype Ontology (HPO), ICD, Orphanet, Snomed-CT.
  • Application of standard operating procedures as part of the laboratory management process.

Relevant learning outcomes

# Outcome
# 1 Outcome In the context of both human and microbes:
# 2 Outcome Annotate variation data in the context of a specific genetic investigation.