Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants

IF 6.6 1区医学 Q1 GENETICS & HEREDITY Genetics in Medicine Pub Date : 2024-07-01 DOI:10.1016/j.gim.2024.101157

Zara Wermers, Seeley Yoo, Bailey Radenbaugh, Amber Douglass, Leslie G. Biesecker, Jennifer J. Johnston

引用次数: 0

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

变体分类的文献挖掘工具比较：通过 50 个 RYR1 变异的视角。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.

期刊最新文献

RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures. Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic. Evolving knowledge of "red flag" clinical features associated with TTR p.(Val142Ile) in a diverse electronic health record-linked biobank. Evaluating Reproductive Carrier Screening using Biotinidase Deficiency as a Model: Variants Identified, Variant Rates and Management. The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.