Back Module: SBI127

Competency: 8

This is a compentency for the module "Applied Next Generation Sequencing".

Competency information

Details

Perform sequence interpretation/reporting within quality control parameters, responding to clinical queries as appropriate.

Considerations

  • Quality metrics.
  • Oral communication skills.
  • Relational database management systems, e.g.POSTGres, Oracle.
  • External genomic databases, e.g. Single-Nucleotide Polymorphisms Database (dbSNP).

Relevant learning outcomes

# Outcome
# 3 Outcome In partnership with the relevant clinical specialist interpret NGS data through SNP, InDEL and CNV analysis, and relate to phenotypic data.  
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