Lv52
1590 积分 2020-04-26 加入
Integrative long-read sequencing, RNA-seq and machine learning framework characterizes and predicts autosomal silencing in unbalanced X-autosome translocations
3小时前
求助中
A standardized framework to assess the clinical actionability of genes and associatedconditions for population-based genomic screening
6天前
已完结
A standardized framework to assess the clinical actionability of genes and associatedconditions for population-based genomic screening
21天前
已完结
Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools
1个月前
已完结
BRCA-CN: a blockchain-based framework to support public variant databases sharing in multi-center community for diagnostic reference and China regulatory science
1个月前
已完结
The utility of artificial intelligence for DNA variant curation in the Mendelian genetic disorder familial hypercholesterolaemia
1个月前
已完结
AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification
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
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
1个月前
已完结
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers
1个月前
已完结
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