  Numerous challenges persist that delay clinical interpretation of human
genetic variants, to name a few: (1) un- structured PubMed articles are the
most abundant source of evidence, yet their variant annotations are difficult
to query uniformly, (2) variants can be reported many different ways, for
example as DNA sequence change or protein modification, (3) historical drift in
annotations over time between various genome reference assemblies and
transcript alignments, (4) no single laboratory has sufficient numbers of human
samples, necessitating precompetitive efforts to share evidence for clinical
interpretation.
