Lake Louise Mutation Detection Meeting 2013: Clinical Translation of Next-Generation Sequencing Requires Optimization of Workflows and Interpretation of Variants

作者：Smith Amanda; Boycott Kym M; Jarinova Olga^*

来源：Human Mutation, 2014, 35(2): 265-269.

DOI：10.1002/humu.22480

• next-generation sequencing
• rare diseases
• cancer
• complex traits
• variants

With the exponential reduction of the cost of next-generation sequencing (NGS), it is no longer the generation of data but the analysis and interpretation of massive amounts of sequencing data that are seen as key challenges for the effective integration of these technologies into clinical practice. Clinical geneticists, informaticians, and scientists from 17 countries gathered for the 12th International Symposium on Mutation in the Genome at the Fairmont Chateau Lake Louise (Canada) to discuss technological advances and applications of NGS and consider possible approaches to the challenges of clinical translation. Here, we provide an overview of the main themes of the meeting that included development of innovative solutions for variant sharing, tools and resources for NGS analysis, novel technology and methodology development, NGS-based discovery of disease pathogenesis, development of multigene NGS sequencing panels for clinical use, exploring diagnostic utility of whole-exome and whole-genome sequencing, and, finally, integration of genomic sequencing into the clinic.

• 出版日期2014-2