- Nov 10, 2015
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Vermaat authored
Partial fix for https://humgenprojects.lumc.nl/trac/mutalyzer/ticket/188
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Vermaat authored
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- Oct 13, 2015
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Vermaat authored
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- Sep 23, 2015
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Vermaat authored
In case of an alternative start codon, the variant CDS was not translated to a protein starting with M. This caused the protein description machinery to conclude a variant affecting the start codon, hence reporting `p.?`. We fix this by always translating the start codon to M (except when the variant actually affects it). Example: `NM_024426.4:c.1107A>G` (a synomymous mutation) should yield `NM_024426.4(WT1_i001):p.(=)`, not `p.?`. The start codon for that protein is `CTG`.
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- Jul 15, 2015
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Vermaat authored
When a variant results in a frame shift or extension and we don't see a new stop codon in the RNA, the protein description should use the notation for an uncertain stop codon, e.g., `p.(Gln730Profs*?)` instead of `p.(Gln730Profs*96)` where 96 is just the last codon in our transcript [1]. To detect this, we now use `to_stop=False` in our `.translate()` calls, since that will explicitely return `*` characters for stop codons. We also slightly fix the coloring of changes in the protein sequence where previously changed stop codon characters where not included. [1] http://www.hgvs.org/mutnomen/FAQ.html#nostop
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- May 18, 2015
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We can now compare two sequences by supplying their sequence strings, accession numbers, or uploaded file.
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- Jan 30, 2015
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Vermaat authored
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- Oct 20, 2014
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Vermaat authored
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- Jan 22, 2014
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Vermaat authored
This is The Good Stuff. The entire test suite can now be run without having to setup a database, running the batch checker, any of the web services or the website. It even passes without an internet connection. In, like, 30 seconds! Awesome! This means tests don't randomly fail after some reference sequence changes on the NCBI server and it doesn't take an entire configured server with mapping database setup to run the tests. Those are things of the past! No more frustrations, Mutalyzer is testable! Going down now... The mountain screamed three times today I guess it thought it'd like to play How much does one have to pay To fry a peak and melt away Launching titan's breath on mine The sweating measure lands on time And the old man, down by the river Well he walks up and he walks on down To the spaceship that's parked at your doorstep And it's waiting to take you away now Goin' down now Goin' down now Looking for the rate that crowed He's hooked up down in Mexico Slap my nerve now give me more It's my disaster friend, not yours And the old man, down by the river Well he walks up and he walks on down To the spaceship that's parked at your doorstep And it's waiting to take you away now And the last one, it's down by the river Where he gets up and he walks on down To the spaceship that's parked at your doorstep And it's waiting to take you away now It's down by the river, it's always this way now It's down by the river, it's always this way now Going down now Going down now now, now, now down, down, down
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- Jan 04, 2014
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Vermaat authored
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- Apr 04, 2011
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Vermaat authored
- Added error recovery to batch daemon. - Added example init script for batch daemon. git-svn-id: https://humgenprojects.lumc.nl/svn/mutalyzer/branches/refactor-mutalyzer-branch@244 eb6bd6ab-9ccd-42b9-aceb-e2899b4a52f1
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