1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
|
# Segmented HAPlotype Estimation and Imputation Tools version 4 (SHAPEIT4)
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:
O. Delaneau, M. Robinson, JF. Zagury, J. Marchini, ET. Dermitzakis. Integrative haplotype estimation with sub-linear complexity. BioRxiv 2018.
## Documentation
https://odelaneau.github.io/shapeit4/
## License
This project is licensed under the MIT License - see the [LICENSE](LICENSE) file for details
|
