An expanded phenotype centric benchmark of variant prioritisation tools
Author:
Affiliation:
1. Telethon Kids Institute Precision Health Computational Biology The University of Western Australia Subiaco Western Australia Australia
Funder
McCusker Charitable Foundation
Publisher
Hindawi Limited
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24362
Reference54 articles.
1. A method and server for predicting damaging missense mutations
2. ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants
3. A phenotype centric benchmark of variant prioritisation tools
4. Identifying Mendelian disease genes with the Variant Effect Scoring Tool
5. Clinical sequencing: From raw data to diagnosis with lifetime value
Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Editorial: Identification of phenotypically important genomic variants;Frontiers in Bioinformatics;2023-11-10
2. VariBench, new variation benchmark categories and data sets;Frontiers in Bioinformatics;2023-09-19
3. Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes;Human Mutation;2023-08-07
4. A systematic analysis of genotype–phenotype associations with PLA2G6;Parkinsonism & Related Disorders;2023-07
5. Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing;BMC Medical Genomics;2023-06-09
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