Lv2
120 积分 2023-08-22 加入
Incorporation of clinical and molecular variant properties improves the performance of in silico pathogenicity prediction tools
2个月前
已关闭
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network
2个月前
已完结
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages
2个月前
已完结
Incorporation of Clinical and Molecular Variant Properties Improves the Performance of in silico Pathogenicity Prediction Tools
2个月前
已关闭
MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering
2个月前
已完结
Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify
2个月前
已完结
Pitfalls in variant interpretation: a critical re-evaluation of somatic versus germline classifications
2个月前
已完结
Reclassification of missense variant pathogenicity using ClinGen recommendations for recalibrated PP3/BP4 in silico predictor score thresholds
3个月前
已完结
Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify
3个月前
已完结
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
3个月前
已完结
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