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A Retrieval-Augmented Knowledge Mining Method with Deep Thinking LLMs for Biomedical Research and Clinical Support
Introduction
Knowledge graphs and large language models (LLMs) serve as key tools for biomedical knowledge integration and reasoning, facilitating the structured organization of literature and the discovery of deep semantic relationships. However, existing methods still face challenges in knowledge mining and cross-document reasoning: knowledge graph construction is constrained ...
A Retrieval-Augmented Knowledge Mining Method with Deep Thinking LLMs for Biomedical Research and Clinical Support
Introduction
Knowledge graphs and large language models (LLMs) serve as key tools for biomedical knowledge integration and reasoning, facilitating the structured organization of literature and the discovery of deep semantic relationships. However, existing methods still face challenges in knowledge mining and cross-document reasoning: knowledge graph construction is constrained ...
Using:
- vadr annotation (virus model must be selected in options)
- vardict variant caller
- coverage depth Provides summarizing files:
- png image of variant calling with annotations and coverage depths
- tsv file with all information of significant variants only
Type: Galaxy
Creators: Fabrice Touzain, This study was founded by the French National Research Agency and by Santé publique France as part of the project "EMERGEN". Anses Ploufragan research was also supported by Agglomération de Saint-Brieuc, Département des Côtes d'Armor and Région Bretagne
Submitter: Fabrice Touzain
SINGLE-END workflow. Align reads on fasta reference/assembly using bwa mem, get a consensus, variants, mutation explanations.
IMPORTANT:
- For "bcftools call" consensus step, the --ploidy file is in "Données partagées" (Shared Data) and must be imported in your history to use the worflow by providing this file (tells bcftools to consider haploid variant calling).
- SELECT the mot ADAPTED VADR MODEL for annotation (see vadr parameters).
PAIRED-END workflow. Align reads on fasta reference/assembly using bwa mem, get a consensus, variants, mutation explanations.
IMPORTANT:
- For "bcftools call" consensus step, the --ploidy file is in "Données partagées" (Shared Data) and must be imported in your history to use the worflow by providing this file (tells bcftools to consider haploid variant calling).
- SELECT THE MOST ADAPTED VADR MODEL for annotation (see vadr parameters).
Using:
- vadr annotation (virus model must be selected in options)
- vardict variant caller
- coverage depth Provides summarizing files:
- png image of variant calling with annotations and coverage depths
- tsv file with all information of significant variants only
Type: Galaxy
Creators: Fabrice Touzain, This study was founded by the French National Research Agency and by Santé publique France as part of the project "EMERGEN". Anses Ploufragan research was also supported by Agglomération de Saint-Brieuc, Département des Côtes d'Armor and Région Bretagne
Submitter: Fabrice Touzain
Using:
- vadr annotation (virus model must be selected in options)
- vardict variant caller
- coverage depth Provides summarizing files:
- png image of variant calling with annotations and coverage depths
- tsv file with all information of significant variants only (can be opened in Excel/LibreOffice)
Type: Galaxy
Creators: Fabrice Touzain, This study was founded by the French National Research Agency and by Santé publique France as part of the project "EMERGEN". Anses Ploufragan research was also supported by Agglomération de Saint-Brieuc, Département des Côtes d'Armor and Région Bretagne
Submitter: Fabrice Touzain
Using:
- vadr annotation (virus model must be selected in options)
- vardict variant caller
- coverage depth Provides summarizing files:
- png image of variant calling with annotations and coverage depths
- tsv file with all information of significant variants only (can be opened in Excel/LibreOffice)
Type: Galaxy
Creators: Fabrice Touzain, This study was founded by the French National Research Agency and by Santé publique France as part of the project "EMERGEN". Anses Ploufragan research was also supported by Agglomération de Saint-Brieuc, Département des Côtes d'Armor and Région Bretagne
Submitter: Fabrice Touzain