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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415437/
https://www.ncbi.nlm.nih.gov/pubmed/27811861
http://dx.doi.org/10.1038/gim.2016.152

Ejemplares similares

Ejemplares similares