Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants
Author:
Funder
National Institutes of Health
National Human Genome Research Institute
Merck
Publisher
Elsevier BV
Reference16 articles.
1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015
2. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion;Abou Tayoun;Hum Mutat,2018
3. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework;Brnich;Genome Med,2019
4. ClinGen Sequence Variant Interpretation Working Group. Updated recommendation for the benign stand-alone ACMG/AMP criterion;Ghosh;Hum Mutat,2018
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Cited by 5 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. Response to Kiel and Kozaric;Genetics in Medicine;2024-07
2. Correspondence on “Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants” by Wermers et al;Genetics in Medicine;2024-07
3. Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants (vol 26, 101083, 2024);GENET MED;2024
4. Response to Wei et al;Genetics in Medicine;2024-07
5. Correspondence on “Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants” by Wermers et al;Genetics in Medicine;2024-07
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