Searching PubMed for articles relevant to clinical interpretation of rare human genetic variants
This work tackles a critical problem for clinicians and geneticists in interpreting rare genetic variants, but appears incremental as it identifies issues without proposing a novel solution.
The paper addresses challenges in clinical interpretation of rare human genetic variants, including unstructured PubMed articles, variant reporting inconsistencies, historical annotation drift, and insufficient sample sizes, but does not present a specific result or concrete numbers.
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.