小柯机器人

美国华盛顿大学Obi L. Griffith、Malachi Griffith等研究人员合作，建立了对癌症体细胞基因组变异临床注释的统一数据库。2020年4月3日出版的《自然—遗传学》杂志发表了这项成果。

Title: A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

Author: Alex H. Wagner, Brian Walsh, Georgia Mayfield, David Tamborero, Dmitriy Sonkin, Kilannin Krysiak, Jordi Deu-Pons, Ryan P. Duren, Jianjiong Gao, Julie McMurry, Sara Patterson, Catherine del Vecchio Fitz, Beth A. Pitel, Ozman U. Sezerman, Kyle Ellrott, Jeremy L. Warner, Damian T. Rieke, Tero Aittokallio, Ethan Cerami, Deborah I. Ritter, Lynn M. Schriml, Robert R. Freimuth, Melissa Haendel, Gordana Raca, Subha Madhavan, Michael Baudis, Jacques S. Beckmann, Rodrigo Dienstmann, Debyani Chakravarty, Xuan Shirley Li, Susan Mockus, Olivier Elemento, Nikolaus Schultz, Nuria Lopez-Bigas, Mark Lawler, Jeremy Goecks, Malachi Griffith, Obi L. Griffith, Adam A. Margolin

Issue&Volume: 2020-04-03

Abstract: Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent somatic cancer variant knowledgebases were highly disparate in content, structure and supporting primary literature, impeding consensus when evaluating variants and their relevance in a clinical setting. We developed a framework for harmonizing variant interpretations to produce a meta-knowledgebase of 12,856 aggregate interpretations. We demonstrated large gains in overlap between resources across variants, diseases and drugs as a result of this harmonization. We subsequently demonstrated improved matching between a patient cohort and harmonized interpretations of potential clinical significance, observing an increase from an average of 33% per individual knowledgebase to 57% in aggregate. Our analyses illuminate the need for open, interoperable sharing of variant interpretation data. We also provide a freely available web interface (search.cancervariants.org) for exploring the harmonized interpretations from these six knowledgebases.

DOI: 10.1038/s41588-020-0603-8

Source: https://www.nature.com/articles/s41588-020-0603-8

Nature Genetics：《自然—遗传学》，创刊于1992年。隶属于施普林格·自然出版集团，最新IF：41.307
官方网址：https://www.nature.com/ng/
投稿链接：https://mts-ng.nature.com/cgi-bin/main.plex