Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation

Design and interpretation of genome sequencing assays in clinical diagnostics and research labs is complicated by an inability to identify information from the medical literature and related databases quickly, comprehensively and reproducibly. This challenge is compounded by the complexity and heter...

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Bibliographic Details
Main Authors: Lauren M. Chunn, Diane C. Nefcy, Rachel W. Scouten, Ryan P. Tarpey, Gurinder Chauhan, Megan S. Lim, Kojo S. J. Elenitoba-Johnson, Steven A. Schwartz, Mark J. Kiel
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Genetics
Subjects:
genome sequence analysis
copy number variant
rare disease
oncology
gene fusions
variant interpretation and classification
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.577152/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2020.577152/full

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