Assessing the utility of large language models for phenotype-driven gene prioritization in the diagnosis of rare genetic disease-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Assessing the utility of large language models for phenotype-driven gene prioritization in the diagnosis of rare genetic disease

Published:2024-09 Issue: Volume: Page:
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kim Junyoung,Wang Kai,Weng Chunhua,Liu Cong^ORCID

Funder

NHGRI

Publisher

Elsevier BV

Reference55 articles.

1. Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease;Jacobsen;Hum. Mutat.,2022

2. Clinical diagnostics in human genetics with semantic similarity searches in ontologies;Kohler;Am. J. Hum. Genet.,2009

3. Next-generation diagnostics and disease-gene discovery with the Exomiser;Smedley;Nat. Protoc.,2015

4. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature;Birgmeier;Sci. Transl. Med.,2020

5. Phenolyzer: phenotype-based prioritization of candidate genes for human diseases;Yang;Nat. Methods,2015

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