A variant by any name: quantifying annotation discordance across tools and clinical databases
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Title
A variant by any name: quantifying annotation discordance across tools and clinical databases
Authors
Keywords
HGVS, Clinical testing, Genomics, Annotation, Sequencing, Syntax, Precision medicine, Variant
Journal
Genome Medicine
Volume 9, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-01-24
DOI
10.1186/s13073-016-0396-7
References
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