1. Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine 
Kathryn B. Garber, Lisa M. Vincent, John J. Alexander, Lora J.H. Bean, Sherri Bale, Madhuri Hegde 
The American Journal of Human Genetics 
Volume 99, Issue 5, Pages (November 2016)
DOI: /j.ajhg
Copyright © 2016 American Society of Human Genetics Terms and Conditions

2. Figure 1
Comparisons Used for Identifying Sources of Variant Discrepancies
Sequence variants identified through molecular testing at the EGL were captured in our internal variant database, EmVar. We quantified gene and variant classifications internally in comparison to those in the popular human genetics databases, such as GeneReviews, OMIM, HGMD, locus-specific databases, and other disease-specific databases, as well as population databases, such as dbSNP, the EVS, and the ExAC Browser (1). We assessed changes in variant classification internally over time (2). Finally, we identified and attempted to rectify variant-classification discrepancies between the EGL and other clinical genetic-testing laboratories (3).
The American Journal of Human Genetics  , DOI: ( /j.ajhg )
Copyright © 2016 American Society of Human Genetics Terms and Conditions