Segmented HAPlotype Estimation and Imputation Tools version 4 (SHAPEIT4)

VERSION 5

Warning Stop using version 4. Use instead version 5, availble from there:

• WEBSITE https://odelaneau.github.io/shapeit5/
• GIHUB https://github.com/odelaneau/shapeit5

Introduction

SHAPEIT4 is a fast and accurate method for estimation of haplotypes (aka phasing) for SNP array and sequencing data. The version 4 is a refactored and improved version of the SHAPEIT algorithm with multiple key additional features:

• It includes a Positional Burrow Wheeler Transform (PBWT) based approach to quickly select a small set of informative conditioning haplotypes to be used when updating the phase of an individual.
• We have changed that way in which phase information in sequencing reads is input into the model. We now recommend the use of the WhatsHap tool as a pre-processing step to extract phase information from a bam file..
• It accounts for sets of pre-phased genotypes (i.e. haplotype scaffold). The scaffold can be derived either from family data or large reference panels.
• It reads and writes files using HTSlib for better I/O performance in either VCF or BCF formats.
• The genotype graph and HMM routines have been re-implemented for better hardware usage and performance.
• The source code is provided in an open source format (license MIT) on github.

If you use the SHAPEIT4 in your research work, please cite the following paper:

Delaneau O., et al. Accurate, scalable and integrative haplotype estimation. Nature Communications volume 10, Article number: 5436 (2019). https://www.nature.com/articles/s41467-019-13225-y

Documentation

https://odelaneau.github.io/shapeit4/

License

This project is licensed under the MIT License - see the LICENSE file for details