TABLE.DOC Documentation for TABLE.EXE This is a very simple program which takes the output from MLINK or LINKMAP and tabulates it in a more easily digestible form. It can also produce files suitable for graphing lod scores and for input to HOMOG, BTEST and FASTMAP. The input file is the OUTPUT.DAT file which the LINKAGE programs produce. When using LINKSYS this file is renamed to be FILENAME.RES. With LCP or the LINKSYS program MCP it is possible to run a whole load of analyses all at once and output them into one results file. If you do this TABLE will not work correctly - it expects to find the output from only one analysis by either LINKMAP or MLINK. If you have set up a batch file to run several analyses at once, you must edit the output so that the result of each analysis is in a different .RES file. TABLE has actually only been tested with the results files produced by LINKSYS v. 4.11 and LINKAGE v. 4.7 and 5. With LINKMAP it assumes that the test locus is named first and that the whole map has been produced. With MLINK it assumes that the "lod score table" output option has been selected. TABLE may work in other circumstances - I just haven't tried it. If you are working with more than one pedigree at a time then make sure that the "byfamily" switch in the LINKAGE programs is set to true so that likelihood values are output for each family - it will not increase the time that it takes the program to run. Otherwise only the total lod scores across pedigrees will be available. If your results have ended up in FILENAME.RES then to use TABLE just enter: TABLE FILENAME A new file will be created on your disk called FILENAME.TAB. This contains a table of lod scores at different recombination frequencies, or with LINKMAP at different distances taking distance 0 to be at 0% recombination with the leftmost fixed marker. The lod scores are calculated by subtracting the log10 likelihood at theta=50% from the log10 likelihood at other recombination fractions. Reombination fractions are converted to distances in centimorgans using the Kosambi mapping function. There are six optional switches which can be used with TABLE to produce other files: TABLE FILENAME /G /H /A[val] /B /I /X (MSDOS) table filename -g -h -a[val] -b -i -x (Unix) If /G is selected a file called FILENAME.GRP will be created. This provides the input for a Shareware graphing program available from me called EASIGRAF, which forms part of the EASISTAT package. To see the graph of lod scores one simply enters: EASIGRAF FILENAME.GRP If /X is selected a file called FILENAME.XGR will be created. This is a graph file for the ACE/gr graphing program, which runs on workstations and terminals using X. Run the program (called xvgr or xmgr) and select the "Read sets" command from the "File" menu. Read in the file (FILENAME.XGR). Click on the autoscale button (AS) and the graph of lod scores should be displayed. ACE/gr was written by Paul Turner and is available in source form from ftp.ccalmr.ogi.edu in CCALMR/pub/acegr. If /H is selected a file called FILENAME.HOM is produced which can be read in by Jurg Ott's HOMOG program to perform the A-test of homogeneity of linkage. (See Ott, 1985 Analysis of Human Genetic Linkage, John Hopkins University Press and Ott, Ann Hum Genet 47:311-320, 1983). A version of the program is available from Jurg Ott but unfortunately this no longer uses the same format as the listing in the book so some editing would be necessary. The source code for a version transcribed into C which uses the original format is included together with the executable. If /A is selected then the TABLE program itself performs the A- test calculations. It outputs the adjusted lod score (log 10 of the likelihood ratio) obtained under the assumption of heterogeneity, called A-lod, together with alpha, the fraction of linked families which produce this maximum lod. It does not explicitly perform the test for statistical significance which the original HOMOG program does. To do this by hand, subtract the maximum conventional (total) lod from the maximum value of A-lod and multiply by 2ln(10) (twice the natural log of 10, about 4.605). According to Ott's original account, this may be taken as a chi-squared statistic with one degree of freedom providing evidence to support the hypothesis of heterogeneity if linkage is assumed. It is also possible to supply a fixed value for alpha, in which case the adjusted lod will be calculated assuming that the given fraction of families is linked (otherwise the TABLE program searches for the value of alpha which yields the maximum lod score). To supply a fixed value for alpha, enter it directly after the /A switch, e.g. /A0.5, /A0.8. Any number of fixed alpha values can be specified, as well as or instead of the /A switch on its own. The adjusted lod scores are appended to others in the table and graph files. However for reasons of clarity the graph file written for EASIGRAF will not be set up to display these adjusted lod scores by default. In order to have them displayed then either the graph files should be edited (to insert the relevant DATATYPE:XY lines) or else the Data menu can be used from within EASIGRAF. If /I is selected a file called FILENAME.INP is created which contains recombination fraction and lod score pairs as needed for input into the FASTMAP program. This produces estimates of multipoint lod scores from two-point scores, and has been submitted for publication to Human Heredity. It is available from me or (preferably) from the gene-server ftp site or one of its mirrors (anonymous ftp from ftp.bchs.uh.edu and change directory to /pub/gene-server/dos, or by email from gene- server@bchs.uh.edu or gene-server%bchs.uh.edu@CUNYVM, send mail with subject: SEND DOS HELP). Normally, only recombination fractions between 0.01 and 0.4 are output. It probably isn't advisable to change this, but if you do want to try it you can change the values for MIN_RF_TO_FIT and MAX_RF_TO_FIT in TABLE.C and recompile it. If /B is selected a file called FILENAME.BTE is produced which can be input into Neil Risch's BTEST program for homogeneity of linkage. (See Risch, Am J Hum Genet, 42:353-364, 1988). Copies of this program are available from Neil Risch at Yale University School of Medicine, Department of Epidemiology and Public Health, 60 College Street, PO Box 3333, New Haven, CT 06510; (203) 785-2838; BITNET: RISCH@YALEMED. Note that to produce input for HOMOG and BTEST the .RES file must (obviously) contain output from more than one pedigree and the likelihoods by family must be available. For BTEST the output must be from MLINK, and not LINKMAP. I hope people find this useful. Dave Curtis September 1993 Academic Department of Psychiatry St Mary's Hospital Medical School Praed Street London W2 1NY, England Phone: 071 725 1993 Janet: dcurtis@UK.AC.CRC Elsewhere: dcurtis@CRC.AC.UK EARN/Bitnet: dcurtis%CRC@UKACRL Usenet: ...!mcsun!ukc!mrccrc!D.Curtis