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Creating this ticket to begin collecting requirements and considerations for modeling "Genetic Conditions". This is the name we have given to the concept of "A disease or set of one or more co-occur…
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Get used to the different databases, locate them and view them as a whole.
Databases:
- Databases of ClinVar: Gene_symbol, NCBI_variation_ID, ClinVar_Preferred, Submitter,Rank_diff, Conflict_Re…
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*(This is a duplicate of issue #18, but specifically for iOS users rather than Android users.)*
Before we re-release, we should verify that the following items are addressed:
## Regular App Usag…
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The sequencer shows annotation for insertion one bp ahead instead of showing the position before and after the insertion. What could be the possible issue or is that an acceptable annotation?
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### What happened?
Hana Snow is the engineer for SEQR.
Previously, SEQR used elastic search as its datastore. Unfortunately, elastic search was very expensive because, to get reasonable performanc…
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thanks a lot, professor wang.
here is variant annotated by annovar, but no record in clinvar **online** . can you have a look?
chr5 112162803 112162803 - G 799389 not_specified MedGen:CN169374 crit…
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I use the commad ""/usr/bin/basevar" -h",but it dosnt work !
return me "undefined symbol: hts_utell"
whole waring:
Traceback (most recent call last):
File "/usr/bin/basevar", line 9, in
…
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1. How do you think Phenolyzer will be used in Basic mode? As it stands, it starts as a drop down, but clicking on it doesn't actually drop down a menu. If I type in a term, e.g. breast cancer, we imm…
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Hi. If I have performed data pre-processing step to filter out possiblegermline variants and only kept predicted somatic mutations, can the CBP2 of all variants be assigned a score of 1?
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1) Could non-coding exons interfere with the calculation of the $dist, $d variables in LoF.pm lines 257-263? The code is simply looping over exons in the gene (via perl sub get_gerp_weighted_dist), i.…