31 results for “topic:vep”
Convert a VCF into a MAF, where each variant is annotated to only one of all possible gene isoforms
Characterization of Germline variants
Generic human DNA variant annotation pipeline
HgvsGo is a program designed for analyzing "c." and "p." HGVS (Human Genome Variation Society) notations for single nucleotide variations (SNVs) and small insertions/deletions (indels) after variant calling. It serves as an alternative to tools like snpEff and VEP.
Variant Agents: Multi-Agent Genomic Analysis
C# program to superpose SSVEP and c-VEP flickers on top of other graphical interfaces
GATK 4 Mutect2 Somático
Pipeline for variant annotation using Variant Effect Predictor (VEP)
variant annotation workflow with VEP
No description provided.
population structural variant calling with smoove
Gaze data -based epoch selection algorithm for eye tracker assisted visual evoked potential paradigm
A local API-based biological engine that uses Tracy for sequence alignment and VEP for variant annotation. Built with Python for computational biology and bioinformatics analysis.
Comprehensive Sanger sequence analysis and clinical reporting tool. Identifies SNVs and Indels precisely while keeping your genetic data secure locally.
VEP Community Tool to visualise VEP data using neXtProt tools.
No description provided.
Variantes genéticas de amostras de Rattus norvegicus utilizando GATK4
Girirajan Lab VCF file annotation pipeline
Variant annotation of vcf file using exac and vep
No description provided.
Repository for the I-VEP BCI paradigm
Automated variant annotation pipeline, and curated OMIM and ClinVar SNV datasets, developed by Martina Debnath.
Automated variant interpretation pipeline using VEP, ANNOVAR, and LLaMA3.
🧬 Powerful CLI tool and JavaScript library for genetic variant annotation using Ensembl APIs. Supports SNVs, CNVs, VCF files, inheritance analysis, batch processing, and genome assembly liftover.
Filter and manipulate large VEP outputs from WES cohort studies
En este programa se realice la detección del parpadeo por medio del algoritmo de Viola-Jones. Esto programa se realiza como un soporte para un sistema de adquisición de señales EEG, para la obtención de la señal mfVEP. El programa se encarga de detectar cuando la persona realiza un parpadeo, al detectar el mismo se encarga de mandar un trigger al sistema de adquisición de datos para poder tener un control de en que momento se realizo el parpadeo y poder descarta esa fragmento de la señal en la etapa de preprocesado.
Anotação de VCF somático utilizando a ferramenta VEP ensembl 105 desenvolvido para tarefa avaliativa
No description provided.
Python script providing summary of CADD scores conditioned on several options
An agentic AI pipeline for annotating genetic variants, linking them to disease evidence, and generating structured interpretation reports using biomedical APIs and LLM reasoning.