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Laboratory experience Leeds

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Laboratory experience - Leeds. David J Cockburn. DNA ... 2003: 216 worksheets analysed so far. Diseases: Connexin 26; BRCA1&2; MEN1; MLH1; MSH2 etc... – PowerPoint PPT presentation

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Title: Laboratory experience Leeds


1
Laboratory experience - Leeds
  • David J Cockburn
  • DNA Laboratory, St Jamess University Hospital,
    Leeds
  • david.cockburn_at_leedsth.nhs uk

2
Extent of use of Staden
  • Essentially used for all sequence analysis
  • 2002 215 worksheets analysed
  • 2003 216 worksheets analysed so far
  • Diseases Connexin 26 BRCA12 MEN1 MLH1 MSH2
    etc
  • Versions used currently Pregap version 1.3
  • Gap version 4.7
  • Used by 3 MTOs use Pregap
  • All Clinical Scientists use Pregap and Gap

3
How Staden is used
4
Pregap analysis
5
Gap analysis
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Further information
  • Trace_Diff predominantly used to detect
    mutations, but in the interests of increased
    throughput, would look to automatic reporting of
    mutations in further versions of Staden
  • Checking Complete gap analysis also performed
    by checker
  • Archiving gap4 database files and trace files
    saved and stored

10
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