Genotype and phenotype Tools

CryptoGenotyper is a bioinformatics tool for rapid Cryptosporidium identification. The CryptoGenotyper is a fast and reproducible tool that can be used to classify the genotype of Cryptosporidium samples by directly analyzing the DNA electropherogram files that correspond to two of its characteristic gene markers: SSU rRNA and gp60.

Test for association in genome-wide association studies (GWAS) using a standard linear mixed model to account for population stratification and sample structure. It calculates exact Wald or likelihood ratio test statistics and p-values, and is computationally efficient for large GWAS.

Gubbins is a tool for rapid phylogenetic analysis of large samples of recombinant bacterial whole genome sequences.

OptiType is a novel HLA genotyping algorithm based on integer linear programming, capable of producing accurate 4-digit HLA genotyping predictions from NGS data by simultaneously selecting all major and minor HLA Class I alleles.

cellsnp-lite is an efficient tool for genotyping single cells. cellsnp-lite was initially designed to pileup the expressed alleles in single-cell or bulk RNA-seq data, which can be directly used for donor deconvolution in multiplexed single-cell RNA-seq data, particularly with vireo, which assigns cells to donors and detects doublets, even without genotyping reference. Now besides RNA-seq data, cellsnp-lite could also be applied on DNA-seq and ATAC-seq data, either in bulk or single-cell.

A tool for CNV discovery and genotyping from depth-of-coverage by mapped reads

Sequence-graph-based tool to analyze variation in short tandem repeat regions.

Tools for M. tuberculosis DNA fingerprinting (spoligotyping)

Scripts for parsing Mykrobe predict results for Shigella sonnei.