Final example - Handout from Cookbook Linkage Analysis course, 10/18/2000

To run the scripts we do:

mlink-pedin
ilink-pedin
linkmap-pedin

To get better protection against a crash, we can use an auxiliary program ckpt, but this is not for novices. See: FD: README.checkpoint.

Here is what the 3 final.out files will look like. First, mlink-final.out:



                        MLINK


        Pedigree File              : pedin.tpd
        Parameter File             : datain.tdt
        Output Pedigree File       : pedfile.dat
        Output Parameter File      : datafile.dat
        Log File                   : lsp.log
        Stream File                : lsp.stm

        Date Run                   :  7-Nov-95  12:51:21

        Sex Difference             : 0
        Recomb. Fraction to Vary   : 1
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Locus Order                : 1 2
        Male Recomb. Fractions     : 0.00000000

        Initial Recomb. Fraction   : 0.01000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Initial Recomb. Fraction   : 0.05000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Initial Recomb. Fraction   : 0.10000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Initial Recomb. Fraction   : 0.20000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Initial Recomb. Fraction   : 0.30000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Initial Recomb. Fraction   : 0.40000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000


LINKAGE (V5.1) WITH  2-POINT AUTOSOMAL DATA
ORDER OF LOCI:   1  2


THETAS  0.500
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -19.273056    -8.370164
-----------------------------------
TOTALS      -19.273056    -8.370164
-2 LN(LIKE) =  3.85461e+01 LOD SCORE =     0.000000


THETAS  0.000
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1 -100000000000000000000.000000 -43429355638650388480.000000
-----------------------------------
TOTALS    -100000000000000000000.000000 -43429355638650388480.000000
-2 LN(LIKE) =  2.00000e+20 LOD SCORE = -43429355638650388480.000000


THETAS  0.010
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -21.145838    -9.183501
-----------------------------------
TOTALS      -21.145838    -9.183501
-2 LN(LIKE) =  4.22917e+01 LOD SCORE =    -0.813337


THETAS  0.050
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -19.701227    -8.556116
-----------------------------------
TOTALS      -19.701227    -8.556116
-2 LN(LIKE) =  3.94025e+01 LOD SCORE =    -0.185952


THETAS  0.100
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -19.223124    -8.348479
-----------------------------------

TOTALS      -19.223124    -8.348479
-2 LN(LIKE) =  3.84462e+01 LOD SCORE =     0.021685



THETAS  0.200
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -18.986975    -8.245921
-----------------------------------

TOTALS      -18.986975    -8.245921
-2 LN(LIKE) =  3.79740e+01 LOD SCORE =     0.124243


THETAS  0.300
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -19.055367    -8.275623
-----------------------------------

TOTALS      -19.055367    -8.275623
-2 LN(LIKE) =  3.81107e+01 LOD SCORE =     0.094541



THETAS  0.400
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -19.200549    -8.338675
-----------------------------------

TOTALS      -19.200549    -8.338675
-2 LN(LIKE) =  3.84011e+01 LOD SCORE =     0.031489



                            MLINK



        Pedigree File              : pedin.tpd
        Parameter File             : datain.tdt
        Output Pedigree File       : pedfile.dat
        Output Parameter File      : datafile.dat
        Log File                   : lsp.log
        Stream File                : lsp.stm

        Date Run                   :  7-Nov-95  12:51:24

        Sex Difference             : 0
        Recomb. Fraction to Vary   : 1
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Locus Order                : 1 3
        Male Recomb. Fractions     : 0.00000000

        Initial Recomb. Fraction   : 0.01000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Initial Recomb. Fraction   : 0.05000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Initial Recomb. Fraction   : 0.10000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Initial Recomb. Fraction   : 0.20000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Initial Recomb. Fraction   : 0.30000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000

        Initial Recomb. Fraction   : 0.40000000
        Increment Value            : 2.00000000
        Stop Value                 : 1.00000000





LINKAGE (V5.1) WITH  2-POINT AUTOSOMAL DATA
ORDER OF LOCI:   1  2


THETAS  0.500
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -12.459367    -5.411023
-----------------------------------

TOTALS      -12.459367    -5.411023
-2 LN(LIKE) =  2.49187e+01 LOD SCORE =     0.000000



THETAS  0.000
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1 -100000000000000000000.000000 -43429355638650388480.000000
-----------------------------------
TOTALS    -100000000000000000000.000000 -43429355638650388480.000000
-2 LN(LIKE) =  2.00000e+20 LOD SCORE = -43429355638650388480.000000


THETAS  0.010
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -14.332149    -6.224360
-----------------------------------
TOTALS      -14.332149    -6.224360
-2 LN(LIKE) =  2.86643e+01 LOD SCORE =    -0.813337


THETAS  0.050
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -12.887538    -5.596975
-----------------------------------
TOTALS      -12.887538    -5.596975
-2 LN(LIKE) =  2.57751e+01 LOD SCORE =    -0.185952


THETAS  0.100
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -12.409435    -5.389338
-----------------------------------
TOTALS      -12.409435    -5.389338
-2 LN(LIKE) =  2.48189e+01 LOD SCORE =     0.021685



THETAS  0.200
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -12.173286    -5.286780
-----------------------------------
TOTALS      -12.173286    -5.286780
-2 LN(LIKE) =  2.43466e+01 LOD SCORE =     0.124243



THETAS  0.300
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -12.241679    -5.316482
-----------------------------------
TOTALS      -12.241679    -5.316482
-2 LN(LIKE) =  2.44834e+01 LOD SCORE =     0.094541



THETAS  0.400
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
        1   -12.386861    -5.379534
-----------------------------------
TOTALS      -12.386861    -5.379534
-2 LN(LIKE) =  2.47737e+01 LOD SCORE =     0.031489


Notice that the Lod score for each candidate theta is shown. The Lodscore is the difference between the entry in the LOG 10 LIKE column for that theta and theta = 0.5. The large numbers are -infinity, indicating that theta cannot be 0, because there is an obligatory recombinant.

Now, let us see ilink-final.out:



                         ILINK



        Pedigree File              : pedin.tpd
        Parameter File             : datain.tdt
        Output Pedigree File       : pedfile.dat
        Output Parameter File      : datafile.dat
        Log File                   : lsp.log
        Stream File                : lsp.stm

        Date Run                   :  7-Nov-95  12:51:32

        Sex Difference             : 0
        Interference               : 0

        Locus Order                : 2 3
        Male Recomb. Fractions     : 0.10000000



CHROMOSOME ORDER OF LOCI : 
  1  2

THETAS:
 0.500

-2 LN(LIKE) =  3.38332e+01
LOD SCORE =-6.76864e-09
NUMBER OF ITERATIONS =     4
NUMBER OF FUNCTION EVALUATIONS =    11
PTG = -5.44302e-07



ILINK shows that the best estimate of theta between markers 2 and 3 is 0.5, so they are probably not on the same chromosome arm.

Finally, let us look at linkmap-final.out:



                          LINKMAP



        Pedigree File              : pedin.tpd
        Parameter File             : datain.tdt
        Output Pedigree File       : pedfile.dat
        Output Parameter File      : datafile.dat
        Log File                   : lsp.log
        Stream File                : lsp.stm

        Date Run                   :  7-Nov-95  12:51:41

        Sex Difference             : 0
        Test Locus                 : 1
        Stop Value                 : 0.00000000
        Number of Evaluations      : 5

        Locus Order                : 1 2 3
        Male Recomb. Fractions     : 0.50000000 0.25000000






THETAS  0.500 0.250
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.899877   -10.813856
-2 LN(LIKE) =  4.97998e+01


THETAS  0.400 0.250
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.827371   -10.782367
-2 LN(LIKE) =  4.96547e+01


THETAS  0.300 0.250
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.682189   -10.719316
-2 LN(LIKE) =  4.93644e+01


THETAS  0.200 0.250
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.613797   -10.689613
-2 LN(LIKE) =  4.92276e+01


THETAS  0.100 0.250
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.849945   -10.792171
-2 LN(LIKE) =  4.96999e+01


THETAS  0.000 0.250
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS    -100000000000000000000.000000 -43429355638650388480.000000
-2 LN(LIKE) =  2.00000e+20





                           LINKMAP



        Pedigree File              : =
        Parameter File             : datain.tdt
        Output Pedigree File       : pedfile.dat
        Output Parameter File      : datafile.dat
        Log File                   : lsp.log
        Stream File                : lsp.stm

        Date Run                   :  7-Nov-95  12:51:45

        Sex Difference             : 0
        Test Locus                 : 1
        Stop Value                 : 0.25000000
        Number of Evaluations      : 5

        Locus Order                : 2 1 3
        Male Recomb. Fractions     : 0.00000000 0.25000000






THETAS  0.000 0.250
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS    -100000000000000000000.000000 -43429355638650388480.000000
-2 LN(LIKE) =  2.00000e+20


THETAS  0.050 0.222
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.466375   -10.625589
-2 LN(LIKE) =  4.89327e+01


THETAS  0.100 0.187
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -23.994311   -10.420575
-2 LN(LIKE) =  4.79886e+01


THETAS  0.150 0.143
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -23.878945   -10.370472
-2 LN(LIKE) =  4.77579e+01


THETAS  0.200 0.083
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.098045   -10.465626
-2 LN(LIKE) =  4.81961e+01


THETAS  0.250 0.000
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS    -100000000000000000000.000000 -43429355638650388480.000000
-2 LN(LIKE) =  2.00000e+20





                            LINKMAP



        Pedigree File              : =
        Parameter File             : datain.tdt
        Output Pedigree File       : pedfile.dat
        Output Parameter File      : datafile.dat
        Log File                   : lsp.log
        Stream File                : lsp.stm

        Date Run                   :  7-Nov-95  12:51:48

        Sex Difference             : 0
        Test Locus                 : 1
        Stop Value                 : 0.50000000
        Number of Evaluations      : 5

        Locus Order                : 2 3 1
        Male Recomb. Fractions     : 0.25000000 0.00000000






THETAS  0.250 0.000
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS    -100000000000000000000.000000 -43429355638650388480.000000
-2 LN(LIKE) =  2.00000e+20


THETAS  0.250 0.100
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.849945   -10.792171
-2 LN(LIKE) =  4.96999e+01


THETAS  0.250 0.200
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.613797   -10.689613
-2 LN(LIKE) =  4.92276e+01


THETAS  0.250 0.300
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.682189   -10.719316
-2 LN(LIKE) =  4.93644e+01


THETAS  0.250 0.400
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.827371   -10.782367
-2 LN(LIKE) =  4.96547e+01


THETAS  0.250 0.500
-----------------------------------
PEDIGREE |  LN LIKE  | LOG 10 LIKE
-----------------------------------
TOTALS      -24.899877   -10.813856
-2 LN(LIKE) =  4.97998e+01


To get lod scores compare the LOG 10 LIKE column entry for your candidate theta against the entry for theta = 0.5 (which means 1 is unlinked to both 2 and 3). This is the first and last entry in the output table.