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Fix variant errors in test data #108

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buske opened this issue May 12, 2015 · 0 comments
Open

Fix variant errors in test data #108

buske opened this issue May 12, 2015 · 0 comments

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@buske
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buske commented May 12, 2015

As @Relequestual mentioned in #105:

I'm running acorss issues converting some of the hgvs codes to ref and alt alleles. I've ran into one variant specifically which is causing problems (NM_005559.3(LAMA1):c.2988_2989delA) as this doesn't appear to be a valid notation. I'm discussing this with Orion and François via email currently. Will report back here with any updates.

Several errors were present, most caused by flipped strand in the HGVS notation in the source manuscripts. Several others were incorrect positions in the underlying manuscripts, resulting in fixed positions.

Additionally, the start position previously listed in the test data was incorrectly 1-based instead of 0-based.

@buske buske added the Testing label May 12, 2015
@buske buske self-assigned this May 12, 2015
@buske buske added this to the Before v1.1 milestone May 12, 2015
buske added a commit that referenced this issue Nov 26, 2016
Issue #109: added zygosity

Issue #105: removed non-spec fields from test data
buske added a commit that referenced this issue Sep 25, 2017
Issue #109: added zygosity

Issue #105: removed non-spec fields from test data
buske added a commit that referenced this issue Sep 25, 2017
Issue #109: added zygosity

Issue #105: removed non-spec fields from test data
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