Open main menu

Genome Analysis Wiki β



1,996 bytes added, 09:13, 4 October 2010
no edit summary
A public release of <code>minimac</code> 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:/ 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.
== Estimating Model Parameters ==
The first step for genotype imputation analyses using MaCH is to build a model that relates your dataset to a reference set of haplotypes. This model will include information on the length of haplotype stretches shared between your sample and the reference panel (in a ''.rec'' file) and information on the similarity of marker genotypes between your sample and the reference panel (in a ''.err'' file). The contents of the second file reflect the combined effects of genotyping error and differences in genotyping assays between the two samples.
In our view, MaCH's ability to estimate these parameters makes it especially robust to problems in genotyping, differences in genotyping assays and in the ability to adjust to varying degrees of similarity between the sample being imputed and a reference panel.
== Step 1: Phasing ==
== Step 2: Imputation ==
== Related Pages ==