Article
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.
The Journal of molecular diagnostics : JMD - 1 May 2017
Lubin Ira M, Aziz Nazneen, Babb Lawrence J, Ballinger Dennis, Bisht Himani, Church Deanna M, Cordes Shaun, Eilbeck Karen, Hyland Fiona, Kalman Lisa, Landrum Melissa, Lockhart Edward R, Maglott Donna, Marth Gabor, Pfeifer John D, Rehm Heidi L, Roy Somak, Tezak Zivana, Truty Rebecca, Ullman-Cullere Mollie, Voelkerding Karl V, Worthey Elizabeth A, Zaranek Alexander W, Zook Justin M
Abstract excerpt
A national workgroup convened by the Centers for Disease Control and Prevention identified principles and made recommendations for standardizing the description of sequence data contained within the variant file generated during the course of clinical next-generation sequence analysis for diagnosing human heritable conditions. The specifications for variant files were initially developed to be flexible with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.