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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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8 of 9,808 resources
VarGenius-HZD allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage.
Megadepth is also available under R/Bioconductor. megadepth: BigWig and BAM related utilities. This package provides an R interface to Megadepth by Christopher Wilks available at (). It is particularly useful for computing the coverage of a set of genomic regions across bigWig or BAM files. With this package, you can build base-pair coverage matrices for regions or annotations of your choice from BigWig files. Megadepth was used to create the raw files provided by .
A method for detecting and adjusting for population structure in genetic summary data. R scripts and data used for the Summix manuscript analysis. The Python implementation of The Hendricks Team's summix method, which efficiently solves ancestral deconvolution problems, given a (large) genetic database. Estimating ancestry structure and adjusting allele frequencies for heterogeneous populations in online genetic databases.
A Simulator of Copy Number Variants and Whole-Exome Sequences from Reference Genomes. A tool for simulating CNVs for WES data. It simulates rearranged genome(s), short reads (fastq) and BAM file(s) automatically in one single command. SECNVs 2.7.1 (SimulateCNVs 2.7.1). SECNVs (Simulator of Exome Copy Number Variants) is a fast, robust and customizable software application for simulating copy number variants and whole-exome sequences from a reference genome
An interactive web tool for versatile, clinically-driven variant interrogation and prioritization. IOBIO is a suite of web apps for visually driven real-time analysis of genomic data. Visually driven real-time analysis of genomic data.
Accucopy is a CNA-calling method that extends our previous Accurity model to predict both total (TCN) and allele-specific copy numbers (ASCN) for the tumor genome. Accucopy adopts a tiered Gaussian mixture model coupled with an innovative autocorrelation-guided EM algorithm to find the optimal solution quickly. The Accucopy model utilizes information from both total sequencing coverage and allelic sequencing coverage.
Genome-wide copy number variants (CNV) calling from off-target reads.
Interpretable prioritization of splice variants in diagnostic next-generation sequencing. Super-quick Information Content and Random Forest Learning for Splice Variants.