PoseyPod / RAG-HPOLinks
This is the repository for the Python based program for automated deep phenotype analysis of clinical information using large language models (LLMs) and Retrieval Augmented Generation (RAG)
☆19Updated last month
Alternatives and similar repositories for RAG-HPO
Users that are interested in RAG-HPO are comparing it to the libraries listed below
Sorting:
- A Tool to Annotate and Prioritize Exome Variants☆233Updated last week
- Tools to convert Illumina IDAT/BPM/EGT/GTC and Affymetrix CEL/CHP files to VCF☆161Updated 2 months ago
- ☆184Updated 2 years ago
- A Python package for pharmacogenomics (PGx) research☆80Updated this week
- WisecondorX — An evolved WISECONDOR☆106Updated 2 months ago
- Annotation and Ranking of Structural Variation☆263Updated last month
- A structural variation pipeline for short-read sequencing☆195Updated this week
- The Pharmacogenomic Clinical Annotation Tool☆148Updated this week
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆34Updated 3 weeks ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆206Updated 4 years ago
- a Medical Genetics Sequence Analysis Pipeline☆84Updated this week
- Warp Analysis Research Pipelines☆219Updated this week
- AI-MARRVEL (AIM) is an AI system for rare genetic disorder diagnosis☆18Updated this week
- The nimble & robust variant annotator☆186Updated last year
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes☆64Updated 3 weeks ago
- Phenotype driven gene prioritization for HPO☆50Updated 4 years ago
- A tool for estimating repeat sizes☆198Updated last year
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆199Updated 2 years ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆172Updated last year
- Estimating tumor fraction in cell-free DNA from ultra-low-pass whole genome sequencing.☆191Updated last year
- ☆32Updated 10 months ago
- Script to automatically create and run IGV snapshot batchscripts☆143Updated 2 years ago
- Annotates variants in MAF with OncoKB annotation.☆136Updated 4 months ago
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆158Updated 3 years ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆94Updated last month
- Copy number calling and variant classification using targeted short read sequencing☆140Updated 2 months ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Updated 2 months ago
- Finder of Somatic Fusion Genes in RNA-seq data☆146Updated 2 months ago
- a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads☆207Updated last month
- Fast HLA type inference from whole-genome data☆139Updated 7 months ago