Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings. - PubMed - NCBI
J Mol Diagn. 2017 Mar 15. pii: S1525-1578(17)30106-X. doi: 10.1016/j.jmoldx.2016.12.001. [Epub ahead of print]
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.
Lubin IM1,
Aziz N2,
Babb LJ3,
Ballinger D4,
Bisht H5,
Church DM6,
Cordes S4,
Eilbeck K7,
Hyland F8,
Kalman L9,
Landrum M10,
Lockhart ER9,
Maglott D10,
Marth G11,
Pfeifer JD12,
Rehm HL13,
Roy S14,
Tezak Z5,
Truty R4,
Ullman-Cullere M15,
Voelkerding KV16,
Worthey E17,
Zaranek AW18,
Zook JM19.
Abstract
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 regard to content representation to support a variety of research applications. This flexibility permits variation with regard to how sequence findings are described and this depends, in part, on the conventions used. For clinical laboratory testing, this poses a problem because these differences can compromise the capability to compare sequence findings among laboratories to confirm results and to query databases to identify clinically relevant variants. To provide for a more consistent representation of sequence findings described within variant files, the workgroup made several recommendations that considered alignment to a common reference sequence, variant caller settings, use of genomic coordinates, and gene and variant naming conventions. These recommendations were considered with regard to the existing variant file specifications presently used in the clinical setting. Adoption of these recommendations is anticipated to reduce the potential for ambiguity in describing sequence findings and facilitate the sharing of genomic data among clinical laboratories and other entities. Published by Elsevier Inc.
.png)
No hay comentarios:
Publicar un comentario