Population-scale genotyping using pangenome graphs
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Updated
Feb 29, 2024 - C++
Population-scale genotyping using pangenome graphs
tools for genetic genealogy and the analysis of consumer DNA test results
Rare variant test software for next generation sequencing data
Bayesian genotyper for structural variants
mgatk: mitochondrial genome analysis toolkit
Framework for Interpretable Neural Networks
A Python package for pharmacogenomics (PGx) research
Support Vector Structural Variation Genotyper
Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes
A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data
SNPbinner is a utility for the generation of genotype crossover points and binmaps based on SNP data across recombinant inbred lines.
GenoTools: Advanced Genotype Data Analysis A robust suite for processing genotype data, offering genotype calling (.idat to PLINK), comprehensive sample/variant QC, and ancestry estimation. Ideal for computational biology and genetics research.
Phasing and genotype Imputation comparison. Have been evaluated: BEAGLE 5.4, EAGLE 2.4.1, SHAPEIT 4, MINIMAC 4, IMPUTE 5, using accuracy metrics like: IQS(Imputation Quality score), r2 (Pearson correlation), Concordance.
A bioinformatics pipeline to phase and impute genetic data
Modeling and Analysis of (Statistical) Genetics data in python
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