Lv21
148 积分 2025-11-26 加入
Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long-Read Genome Sequencing
6小时前
已完结
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene
6小时前
待确认
DeepSeek as the paradigm shift in rare disease diagnosis – the power of a fully automated genetic variant classification system
1个月前
已完结
DeepBD: A Grounded Agentic Workflow for Variant Prioritization and Diagnosis of Genetic Birth Defects
1个月前
已完结
Benchmarking large language models for ACMG/AMP variant interpretation and variant calling
1个月前
已完结
MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering
1个月前
已完结
Classification and Genotype–Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review
2个月前
已完结
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
2个月前
已完结
Clinical Feasibility of Long‐Read WGS for DNA Methylation Signature Analysis
4个月前
已完结
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