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7.0 Enhancements In The Version 2.0

 

The main enhancement in this version is the ability to do a fine-mapping run to follow up a peak in a coarse scan. In addition to doing the fine-mapping run one can also run simulations in this mode. A number of small enhancements have been added as well, such as fast check for duplicates, support for PED files and some extra output. A number of small bugs have been fixed as well.

 

In detail the main enhancements are as follows:

 

1)   A new program baseprog allows the user to run the parameter file to make sure the input files are valid, but does not do the MCMC calculation. See the example parameter file parbaseprog which is part of the download. To run the program type on the command line:

 >> baseprog –p parbaseprog or

>>./baseprog –p parbaseprog

p:  is a compulsory option, and in this case we have to specify the parameter file parbaseprog.

To redirect the output in a file one would type on the command line:

>>./baseprog –pv parbaseprog > outbaseprog.dat&

2)   Fine-mapping run capability including simulations. A detailed write up is included in the next section.

3)   Fast duplicate check:  This is a quick check looking for duplicates in the dataset, which is particularly useful in cases where we have a large number                         

       of samples, some of which maybe duplicates. One can do this check by setting the parameter fastdup = YES in the parameter file.

4)      Checkindiv check: This is a check for discarding individuals from the run, automatic in checkit mode.

5)      One can use the physical position information to calculate or reset the genetic position, useful for cases where user doesn’t have the genetic positions. This is implemented using the parameter usephyspos.

6)      There is a new pack mode which supported using the parameter packmode. By default the program sets this to YES, if number of genotypes is greater than a certain number. The user should set this parameter to YES if memory requirement seem large.

7)      User can specify the high and low boundary values for log scores, through the parameters hiclip and loclip.

8)      PED file support, look at the documentation included.

9)      One can print ancestry estimates for a particular SNP or Sample using the parameters: pubxindname, pubx, pubxa and markername. For ex. If user wants to dump gammas for a particular individual with internal individual index 2904 into a file called gammaoutfile, one would specify the following parameters:

 pubxname: gammaoutfile

                  pubx: 2904 -1                    

To dump gammas for a particular marker:

pubxname: gammaoutfile

markername: fake-1:1672

Ex. gamma output files for individual and marker.

10)  We now print out information content for a SNP, this is the rpower column in the output file.

11)   The user can print out the scores for all the markers in a file, to use this functionality the user will need to specify the parameter localoutfilename.

12)  New parameters with this release are given in the accompanying table.

13)  MAC Release: Experimental version not as well tested is available for download.

 

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