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  • License: Apache Software License (Apache License 2.0 (http://www.apache.org/licenses/LICENSE-2.0))
  • Author: UTA Contributors
  • Tags bioinformatics , computational biology , genome variants , genome variation , genomic variants , genomic variation , genomics , hgvs
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Project description

The UTA stores transcripts aligned to genome reference assemblies using multiple methods in order to improve the precision and accuracy by which the scientific and clinical communities describe variants.

It will facilitate the following:

  • enabling an interpretation of variants reported in literature against obsolete transcript records

  • identifying regions where transcript and reference genome sequence assemblies disagree

  • characterizing transcripts of the same gene across transcript sources

  • identifying transcripts and genomic regions with ambiguous alignments that may affect clinical interpretation

  • querying for multiple transcript sources through a single interface

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Avatar for jsstevenson from gravatar.com jsstevenson Avatar for korikuzma from gravatar.com korikuzma Avatar for reece from gravatar.com reece

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  • License: Apache Software License (Apache License 2.0 (http://www.apache.org/licenses/LICENSE-2.0))
  • Author: UTA Contributors
  • Tags bioinformatics , computational biology , genome variants , genome variation , genomic variants , genomic variation , genomics , hgvs
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0.1.8

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0.1.8dev-7511b226b3cb pre-release

0.1.6

0.1.5

0.1.4dev pre-release

0.1.2

0.1.1

0.1.1dev pre-release

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