Minimac

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minimac is a low memory, computationally efficient implementation of the MaCH algorithm for genotype imputation. It is designed to work on phased genotypes and can handle very large reference panels with hundreds or thousands of haplotypes. The name has two parts. The first, "mini", refers to the modest amount of computational resources it requires. The second, "mac", is short hand for MaCH, our widely used algorithm for genotype imputation.

Performance

A good rule of thumb is that minimac should take about 1 hour to impute 1,000,000 markers in 1,000 individuals using a reference panel with 100 haplotypes. Performance should scale linearly with respect to all these factors. So, your approximate computing time in hours should be about:


E(\mbox{Run Time in Hours}) = N_{markers} * N_{individuals} * N_{haplotypes} * 10^{-11}

These statistics refer to Intel X7460 CPU running at 2.66 GHz using 1 core and your mileage may vary; most modern CPUs should be no more than a few times faster (or slower) than that. The parallel version of minimac will achieve an even better performance.

Release Date

A public release of minimac is expected here by October 5, 2010.

Getting Started

Your Own Data

To get started, you will need to store your data in Merlin format pedigree and data files, one per chromosome. For details, of the Merlin file format, see the [http:/www.sph.umich.edu/csg/abecasis/Merlin/tour/input_files.html Merlin tutorial].

Within each file, markers should be stored by chromosome position. Alleles should be stored in the forward strand and can be encoded as 'A', 'C', 'G' or 'T' (there is no need to use numeric identifiers for each allele).

The 1000 Genome pilot project genotypes use NCBI Build 36.

Reference Haplotypes

Reference haplotypes generated by the 1000 Genomes project and formatted so that they are ready for analysis are available from the MaCH download page. The most recent set of haplotypes were generated in June 2010 by combining genotype calls generated at the Broad, Sanger and the University of Michigan. In our hands, this June 2010 release is substantially better than previous 1000 Genome Project genotype call sets.

Step 1: Phasing

Step 2: Imputation

Related Pages

If you are looking to learn about small computers made by Apple, Inc., you have come to the wrong page. Try looking at http://www.apple.com/macmini/, instead.

If you are looking for a low calorie version of the Big Mac sandwich, you'll be sad to know the Mini Mac has been discontinued. However, you are not the only one who likes the idea of a Mini Mac and you'll probably find some company on the web [1].