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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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BCFtools is a set of utilities that manipulate variant calls in the Variant Call Format (VCF) and its binary counterpart BCF. All commands work transparently with both VCFs and BCFs, both uncompressed and BGZF-compressed.

Active8801 month ago
C
MIT

DANTE is a software tool for genotyping and characterizing tandem repeats (TRs) from both second- and third-generation sequencing data. It supports the analysis of short-read massively parallel sequencing (sr-MPS) and long-read massively parallel sequencing (lr-MPS), enabling accurate repeat characterization across a wide range of loci. A key feature of DANTE is its ability to determine genotypes at nucleotide resolution, including the characterization and phasing of complex repeat motifs. For sr-MPS data, the tool determines allele size and sequence composition of alleles for which spanning reads are generated. In addition, it identifies alleles that exceed the sequencing read length by estimating their presence from partial read evidence and supports the visualisation of the sequence composition of partial reads. For lr-MPS data, where complete repeat regions are typically sequenced, DANTE determines the allele size and sequence composition of identified alleles.

Active12 months ago
Rust
NOASSERTION