Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

ClinVar provides open access to variant classifications shared from many clinical laboratories. Although most classifications are consistent across laboratories, classification differences exist. To facilitate resolution of classification differences on a large scale, clinical laboratories were enco...

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Veröffentlicht in:	Human mutation 2018-11, Vol.39 (11), p.1641-1649
Hauptverfasser:	Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W., Lee, Hane, Mao, Rong, Mar‐Heyming, Rebecca, McFaddin, Andrew S., Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., Seppälä, Eija H., Shirts, Brian H., Tidwell, Timothy, Topper, Scott, Vincent, Lisa M., Vinette, Kathy, Rehm, Heidi L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Classification clinvar data sharing Databases, Genetic Genetic disorders Genetic Testing - methods Genetic Variation - genetics Genome, Human - genetics Humans Laboratories Scaling variant interpretation
Online-Zugang:	Volltext
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