AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

Author:

Birgmeier JohannesORCID,Haeussler Maximilian,Deisseroth Cole A.,Jagadeesh Karthik A.,Ratner Alexander J.,Guturu Harendra,Wenger Aaron M.,Stenson Peter D.,Cooper David N.,Ré Christopher,Bernstein Jonathan A.,Bejerano Gill

Abstract

AbstractThe diagnosis of Mendelian disorders requires labor-intensive literature research. Our software system AMELIE (Automatic Mendelian Literature Evaluation) greatly automates this process. AMELIE parses hundreds of thousands of full text articles to find an underlying diagnosis to explain a patient’s phenotypes given the patient’s exome. AMELIE prioritizes patient candidate genes for their likelihood of causing the patient’s phenotypes. Diagnosis of singleton patients (without relatives’ exomes) is the most time-consuming scenario. AMELIE’s gene ranking method was tested on 215 singleton Mendelian patients with a clinical diagnosis. AMELIE ranked the causal gene among the top 2 in the majority (63%) of cases. Examining AMELIE’s top 10 genes, amounting to 8% of 124 candidate genes with rare functional variants per patient, results in diagnosis for 95% of cases. Strikingly, training only on gene pathogenicity knowledge from 2011 leads to identical performance compared to training on current data. An accompanying analysis web portal has launched at AMELIE.stanford.edu.

Publisher

Cold Spring Harbor Laboratory

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3