Clinical genetics

Molecular analysis of genetic disorders

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Navigate the core concepts behind how DNA changes across different levels and the wider molecular impacts these alterations can have. Explore the specific clinical techniques of how genetic disorders are predicted and diagnosed and which conditions they are actively applied to.

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Learning outcomes

Recall and define various genetic disorders, mutation and structural differences and the potential molecular impacts.
Interpret mutations and copy number variants and predict functional impacts.
Recall definitions and apply chromosomal nomenclature to idiograms.
Recall the uses, limitations and applications of diagnostic genetic assays.
Analyse various genetic data and propose reasons for specific observations.

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Skills

Interpreting and Analysing Data

Interpret mutations and copy number variants and predict their functional impacts
Analyse various genetic data and propose reasons behind specific diagnostic observations

Concepts, Principles and Theories

Recall and define various genetic disorders, mutations and structural differences and the molecular impacts they may exhibit
Recall definitions and general conventions associated with chromosomal mapping and idiograms
Recall the uses, limitations and applications of various genetic diagnostic assays

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Subject areas

Biomedical science

Discipline

Clinical biomedical science

Topic

Clinical genetics

Purchase option

The Smart Worksheet Library

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