Universal Transcript Archive
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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