Lv2
160 积分 2023-02-13 加入
Calibration and evaluation of machine-learning algorithms for missense variant classification under ACMG/ClinGen recommendations
22天前
已关闭
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
27天前
已完结
The Human Intolerome: A curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death
1个月前
已完结
Revisiting Founder Populations in an Age of Global Biobanks
1个月前
已关闭
Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease
1个月前
已完结
Abnormal Reactivity of the ∼20-Hz Motor Cortex Rhythm in Unverricht Lundborg Type Progressive Myoclonus Epilepsy
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
The Evidence Aggregator: AI reasoning applied to rare disease diagnostics
1个月前
已关闭
Pleiotropic effects of cis-regulatory mutations
1个月前
已完结
The evolving landscape of obesity pharmacotherapy
1个月前
已完结
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