Population-scale genotyping using pangenome graphs

tools for analyzing and exploring genetic relationships

genotype :: ped correspondence check, ancestry check, sex check. directly, quickly on VCF

Rare variant test software for next generation sequencing data

Bayesian genotyper for structural variants

Framework for Interpretable Neural Networks

mgatk: mitochondrial genome analysis toolkit

PLINK reader for Python.

A Python package for pharmacogenomics (PGx) research

Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes

Support Vector Structural Variation Genotyper

A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data

all methods related to Enterobase

This python script detects known traits in raw human genetic 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.

A bioinformatics pipeline to phase and impute genetic data

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.

No description provided.

Pipeline for processing FASTQ data from an Illumina MiSeq to genotype human RNA viruses like HIV and hepatitis C

Efficient compression and retrieve of genotype data with integer sparse matrices

Modeling and Analysis of (Statistical) Genetics data in python

Spark VCF data source implementation for Dataframes

Manual

A simple python library to identify the most likely strain from the population

A pipeline for detecting Somatic Insertion of DE novo RETROcopies

Computational biology/bioinformatics workflows, codes, tech & concept notes on NGS data

Software for Rapid Analyses of Human Copy Number Data

Single Cell Allele-Specific Analysis - Containerized tool for genotyping, phasing, mapping bias correction, and generation of single cell allele-specific counts

Collecting Genotypes from ENA and make their SNPs