A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

PURPOSE: While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation and reporting of clinically significant variants. This study aimed to examine workflo...

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Vydáno v:Genet Med
Hlavní autoři: O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Johnson, Amy Knight, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5415437/
https://ncbi.nlm.nih.gov/pubmed/27811861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.152
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