About

THORIN is a tool for mapping Identify-By-Descent (IBD) and inferring the Parent-of-Origin of alleles.

News

Version 1.2.0 is now available!

Citation

If you use THORIN in your research, please cite the following paper:

Hofmeister, R.J. et al. Parent-of-Origin inference for biobanks. Nature Communication 2022. https://doi.org/10.1038/s41467-022-34383-6

Hofmeister, R.J. et al. Parent-of-Origin inference and its role in the genetic architecture of complex traits: evidence from ∼220,000 individuals


Get started now View source code on GitHub


Getting started


Description

THORIN is a tool to map Identity-by-Descent between a focal individual and reference individuals that is particularly well suited for inferring the parent-of-origin of alleles, by using surrogate parent groups as reference individuals. It is composed of the following options:

  • IBD probability per variant site. THORIN can output the probability of sharing IBD at each variant sites.
  • IBD probability per variant site, VCF/BCF format. The output file can be formatted as indexable VCF/BCF file to allow easy extraction of individuals or genomic region of interests.
  • IBD segments. THORIN can output shared IBD haplotype segments.
  • IBD scaffold. THORIN can provide an IBD-based scaffold for re-estimating haplotype, both for correcting long-range intra-chromosomal phasing errors and for performing inter-chromosomal phasing.

IBD per variant site IBD probability per variant site, VCF/BCF format IBD segments IBD scaffold


About the project

THORIN is developed by Robin Hofmeister, Theo Cavinato and Olivier Delaneau.

License

THORIN is distributed with MIT license.

Organisations

unil
sib
snf

Contributing

THORIN is an open source project and we very much welcome new contributors. When contributing to our repository, please first discuss the change you wish to make via issue, email, or any other method with the owners of this repository before making a change.


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Copyright © 2022-2025 Robin Hofmeister, Theo Cavinato and Olivier Delaneau | All Rights Reserved | THORIN executables and source code are distributed under the MIT license.