a lightweight bam file depth statistical tool

Python library to parse, format, validate, normalize, and map sequence variants according to HGVS Nomenclature (https://hgvs-nomenclature.org/).

The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants

利用AI大模型，一键生成高清短视频 Generate short videos with one click using AI LLM.

Copy number variant detection from targeted DNA sequencing

online image editor

Strelka2 germline and somatic small variant caller

NeuSomatic: Deep convolutional neural networks for accurate somatic mutation detection

HGVS variant name parsing and generation

Basic UPD caller

Singularity has been renamed to Apptainer as part of us moving the project to the Linux Foundation. This repo has been persisted as a snapshot right before the changes.

phenotype-based prioritization of candidate genes for human diseases

Phenotype driven gene prioritization for HPO

A Tool to Annotate and Prioritize Exome Variants

A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline