AVADA: Towards Automated Pathogenic Variant Evidence Retrieval Directly from the Full Text Literature

PURPOSE: Both monogenic pathogenic variant cataloging, and clinical patient diagnosis start with variant-level evidence retrieval followed by expert evidence integration in search of diagnostic variants and genes. Here, we try to accelerate pathogenic variant evidence retrieval by an automatic appro...

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Udgivet i:Genet Med
Main Authors: Birgmeier, Johannes, Deisseroth, Cole A., Hayward, Laura E., Galhardo, Luisa M. T., Tierno, Andrew P., Jagadeesh, Karthik A., Stenson, Peter D., Cooper, David N., Bernstein, Jonathan A., Haeussler, Maximilian, Bejerano, Gill
Format: Artigo
Sprog:Inglês
Udgivet: 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7301356/
https://ncbi.nlm.nih.gov/pubmed/31467448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0643-6
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