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A directory of tools, AI models, datasets, and research resources for biotech, bioinformatics, and other scientific fields. Aggregated from curated GitHub awesome-lists, HuggingFace, bio.tools, Bioconductor, and more.
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4 of 9,815 resources
CBIcall is a workflow-agnostic, configuration-driven framework designed for standardized variant calling in large-scale, federated genomic cohorts.
SMAca: SMA Carrier Analysis tool. SMN1 copy-number and sequence variant analysis from next generation sequencing data. SMAca is a python tool to detect putative SMA carriers and estimate the absolute SMN1 copy-number in a population. Moreover, SMAca takes advantage of the knowledge of certain variants specific to SMN1 duplication to also identify the so-called “silent carriers” (i.e. individuals with two copies of SMN1 on one chromosome, but none on the other).
Determining the serotype composition of mixed samples of pneumococcus using whole genome sequencing | Pneumococcal serotype quantification using NGS reads | SeroCall can identify and quantitate the capsular serotypes in Illumina whole-genome sequencing samples of S. pneumoniae, calculating abundances of each serotype in mixed cultures. The software is written in Python (compatible with Python 2 or 3), and is freely available under an open source GPLv3 license
A novel isolation-forest-based package to detect copy number variations from various NGS datasets.