Sequencing analysis for detection of mutations
Posted 30 March 2011 - 07:16 AM
Posted 10 April 2011 - 10:48 PM
But it's not that difficult to use a sequence viewer like FinchTV (my favourite, requires registration to download for free) or Chromas Lite, check the sequence visually for heterozygous mutations (you'll see two peaks in one spot), BLAST the sequence (FinchTV has a right-click option to directly BLAST selected sequence) to see sequence coverage and identity.
If you find a mutation, you can localise it on a corresponding gene in the Ensembl database, that shows nucleotide and protein sequence underneath in the cDNA view.
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Posted 11 April 2011 - 12:50 AM
Download is free, get some trial period (30 or 60 days) after which, it does not allow you to export reports or something. But the best part, is that it calls on mutations and looks them up and reports them directly.
So, it will call a previously reported mutation directly by its name. something like G308A in TNF alpha.
edit: does NOT allow.
Edited by gt_ameya, 11 April 2011 - 12:51 AM.
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