Welcome to TrioMix’s documentation!

TrioMix is a bioinformatics tool to detect intrafamilial contamination, chimerism, uniparental disomy by investigating inheritance patterns of SNPs. TrioMix quantifies the deviation from Mendelian inheritance patterns by using maximum likelihood esstimation (MLE) inferred from the genotypes of parent-offspring trio. TrioMix can be used on both whole-genome sequencing (WGS) of trios or whole-exome sequencing (WES) of trios.

TrioMix can be installed by cloning the github or using the pre-built docker image.

Check out the Usage section for further information, including how to Install the project.

If you use Triomix in your analysis, please cite our work below.

“Estimation of intrafamilial DNA contamination in family trio genome sequencing using Mendelian inconsistencies. Yoon et al., Genome Research (2022)” [link to paper]