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Searching PubMed for articles relevant to clinical interpretation of rare human genetic variants
February 09, 2016 Β· Declared Dead Β· π arXiv.org
"No code URL or promise found in abstract"
Evidence collected by the PWNC Scanner
Authors
Andrew J. McMurry
arXiv ID
1602.02911
Category
cs.IR: Information Retrieval
Cross-listed
q-bio.QM
Citations
0
Venue
arXiv.org
Last Checked
4 months ago
Abstract
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.
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