Latest revision as of 18:22, 21 October 2010

haploxt is a C/C++ software developed by Yun Li and Goncalo Abecasis. It calculates LD (D' and r²) from phased haplotypes.

Input Files

Required Input

Haplotype File

Fed to the option --haps or -h, the input haplotype file is in the form of one haplotype per line (no delimiter between alleles). The file could contain fields other than the actual haplotypes but must proceed the actual haplotype field. Allele coding is flexible: accepted coding includes 1234, ACGT, 12, AB etc.

Sample haplotype file 1:
Indiv1 HAPLO1 142344111132344413444421333122313342113321324233112323134222
Indiv1 HAPLO2 144222444221443323334431431242131234311333144223411321334422
Indiv2 HAPLO1 144224441221443323334331431243131232311321123323432321334412
Indiv2 HAPLO2 342222444221344312343433333122313344113321324223112323334412

Sample haplotype file 2:
142344111132344413444421333122313342113321324233112323134222
144222444221443323334431431242131234311333144223411321334422
144224441221443323334331431243131232311321123323432321334412
342222444221344312343433333122313344113321324223112323334412

SNP File

Fed to the option --snps or -s, the input SNP file is a list of SNP name in the same order as in the haplotype file. One SNP per line.

Sample SNP file:
SNP1
SNP2
SNP3
...

Optional Input

Relevant SNP File

Fed to the option --relevant or -r, the relevant SNP file is a list of SNPs among which LD values are desired.

Options

--allelefrequency

Option to calculate allele frequency and output to prefix.freq.

--allelecounts

Option to calculate allele counts and output to prefix.ac.

--ld

Option to calculate LD. Note that this option has to be turned on for LD to be calculated.

--windowSize or -w

Option to specify the # of flanking SNPs with which LD values are calculated for each SNP. Default is 1,000, meaning that LD with 1,000 SNPs on each side (2,000 total) will be calculated for each SNP.

--r2Threshold or -t

Minimum r² value for a pair of SNPs to be in output. Default is 0.00.

--DprimeThreshold or -d

Minimum D' value for a pair of SNPs to be in output. Default is 0.00.

--pairWithSNP

Option to calcuate LD only with a particular SNP.

--pairWithList

A list of SNPs with which LD values will be calculated.

--coupling

Option to output for each pair the alleles that are positively correlated.

--prefix or -o

Option to specify output prefix.

Output

.freq

Generated when option --allelefrequency is turned on.

sample.freq
SNP AL1 AL2 Freq1 MAF
chr12:16099 1 3 0.4000 0.4000
chr12:16163 4 2 0.9000 0.1000
rs7358779 2 3 0.1000 0.1000
chr12:17063 1 3 0.8000 0.2000
...

.ac

Generated when option --allelecounts is turned on.

sample.ac
SNP AL1 AL2 AC1 MAC
chr12:16099 1 3 4 4
chr12:16163 4 2 9 1
rs7358779 2 3 1 1
chr12:17063 1 3 8 2

.xt

Generated when option --ld is turned on.

sample.xt
M1 M2 DPRIME DELTASQ COUPLING
chr12:16252 chr12:16585 1.0000 0.6667 2,1
chr12:16252 chr12:16665 1.0000 1.0000 2,3
chr12:16252 chr12:16693 1.0000 1.0000 2,4
...

download

You can download the source codes and example files haploxt.

To install, simply type the following command:

 ./build.csh

sample command line

 ./haploxt_names -s sample.snps -h sample.hap --allelefreq --ld -w 500 -t 0.5 --coupling -o sample.out

Additional Questions

Please email Yun Li.

@@ Line 3: / Line 3: @@
 = Input Files  =
-== Required  ==
+== Required Input ==
 === Haplotype File  ===
-The input haplotype file is in the form of one haplotype per line (no delimiter between alleles). The file could contain fields other than the actual haplotypes but must proceed the actual haplotype field.<br><br>
+Fed to the option --haps or -h, the input haplotype file is in the form of one haplotype per line (no delimiter between alleles). The file could contain fields other than the actual haplotypes but must proceed the actual haplotype field. Allele coding is flexible: accepted coding includes 1234, ACGT, 12, AB etc. <br><br>
 Sample haplotype file 1:<br>
@@ Line 21: / Line 21: @@
 342222444221344312343433333122313344113321324223112323334412<br>
-= Options  =
+=== SNP File ===
-== --impped --impdat <br>  ==
+Fed to the option --snps or -s, the input SNP file is a list of SNP name in the same order as in the haplotype file. One SNP per line. <br> <br>
-specify one input pedigree set.
+Sample SNP file: <br>
+SNP1<br>
+SNP2<br>
+SNP3<br>
+...<br> <br>
-== --trueped --truedat <br>  ==
+== Optional Input ==
+=== Relevant SNP File ===
+Fed to the option --relevant or -r, the relevant SNP file is a list of SNPs among which LD values are desired.
-specify the other input pedigree set.
+= Options =
+== --allelefrequency ==
+Option to calculate allele frequency and output to prefix.freq. <br>
-== --match  ==
+== --allelecounts ==
+Option to calculate allele counts and output to prefix.ac. <br>
-generates a matrix taking values 0,1,2 indicating # of matched alleles. The dimension of the matrix is # of overlapping individuals times # of overlapping markers of the two input pedigree sets.
+== --ld ==
+Option to calculate LD. Note that this option has to be turned on for LD to be calculated. <br>
-== --bySNP  ==
+== --windowSize or -w ==
+Option to specify the # of flanking SNPs with which LD values are calculated for each SNP. Default is 1,000, meaning that LD with 1,000 SNPs on each side (2,000 total) will be calculated for each SNP. <br>
-is turned on by default to generate SNP specific measures. The output .bySNP will contain the following 6 fields for each SNP:
+== --r2Threshold or -t ==
+Minimum r<sup>2</sup> value for a pair of SNPs to be in output. Default is 0.00. <br>
-    (1) SNP&nbsp;: SNP name
+== --DprimeThreshold or -d ==
-  (2) gErr&nbsp;: genotypic discordance rate
+Minimum D' value for a pair of SNPs to be in output. Default is 0.00. <br>
-  (3) aErr&nbsp;: allelic discordance rate
-  (4) matchedG&nbsp;: number of genotypes matched
-  (5) matchedA: number of alleles matched
-  (6) maskedG: total number of genotypes evaluated/masked (&lt;=n of course) (I should change the naming to comparedG or evaluatedG)
-<br>
+== --pairWithSNP ==
+Option to calcuate LD only with a particular SNP. <br>
-== --byGeno  ==
+== --pairWithList ==
+A list of SNPs with which LD values will be calculated. <br>
-can be added on top of --bySNP. It will generates the following fields after the 6 fields above:
+== --coupling ==
+Option to output for each pair the alleles that are positively correlated. <br>
-    (7) hetAerr&nbsp;: allelic discordance rate among heterozygotes
+== --prefix or -o ==
-  (8) AL1: allele 1 (an arbitrary allele)
+Option to specify output prefix. <br>
-  (9) AL2: allele 2
-  (10) freq1: frequency of AL1
-  (11) MAF
-  (12) #true 1/1: # individuals with experimental genotype AL1/AL1
-  (13) mm1/2: # of true AL1/AL1 being imputed as AL1/AL2
-  (14) mm2/2: # of true AL1/AL1 being imputed as AL2/AL2
-  (15) #true 1/2
-  (16) mm1/1
-  (17) mm2/2
-  (18) #true 2/2
-  (19) mm1/1
-  (20) mm1/2
-<br>
+= Output =
+== .freq ==
+Generated when option --allelefrequency is turned on. <br> <br>
-<br>
+sample.freq <br>
+SNP AL1 AL2 Freq1 MAF<br>
+chr12:16099 1 3 0.4000 0.4000<br>
+chr12:16163 4 2 0.9000 0.1000<br>
+rs7358779 2 3 0.1000 0.1000<br>
+chr12:17063 1 3 0.8000 0.2000<br>
+...<br>
+<br>
-== --accuracyByGeno  ==
+== .ac ==
+Generated when option --allelecounts is turned on. <br> <br>
-Similar to --byGeno, it is used on top of --bySNP. It may be used together with --byGeno. It will generate the following fields, after (7-20) is --byGeno is turned on or after the 6th field otherwise.
+sample.ac<br>
+SNP AL1 AL2 AC1 MAC<br>
+chr12:16099 1 3 4 4<br>
+chr12:16163 4 2 9 1<br>
+rs7358779 2 3 1 1<br>
+chr12:17063 1 3 8 2<br>
+<br>
-    (A) almajor: major allele
+== .xt ==
-  (B) alminor: minor allele
+Generated when option --ld is turned on. <br> <br>
-  (C) freq1: major allele frequency
-  (D) accuracy11: allelic concordance rate for homozygotes major allele
-  (E) accuracy12: allelic concordance rate for heterozygotes
-  (F) accuracy22: allelic concordance rate for homozygotes minor allele
-<br>
+sample.xt<br>
+M1 M2 DPRIME DELTASQ COUPLING<br>
+chr12:16252 chr12:16585 1.0000 0.6667 2,1<br>
+chr12:16252 chr12:16665 1.0000 1.0000 2,3<br>
+chr12:16252 chr12:16693 1.0000 1.0000 2,4<br>
+...<br>
+<br>
-== --byPerson  ==
+= download =
+You can download the source codes and example files [https://www.sph.umich.edu/csg/yli/haploxt_V108.tgz haploxt].
-generates a separate output file .byPerson and contains the following information for each person:
+To install, simply type the following command:
-    (1) famid
+   ./build.csh
-   (2) subjID
-  (3) gErr
-  (4) aErr
-  (5) matchedG
-  (6) matchedA
-  (7) maskedG
-<br> This --byPerson option is useful if there is potential sample swap or inter-individual difference, e.g., sequencing depth, number of markers genotyped.
+= sample command line =
-<br>
+  ./haploxt_names -s sample.snps -h sample.hap --allelefreq --ld -w 500 -t 0.5 --coupling -o sample.out
-== --maskflag --maskped --maskdat  ==
+= Additional Questions =
+Please email [mailto:yunli@med.unc.edu Yun Li].
-CalcMatch compares all genotypes overlapping the two input sets. However, when --maskflag is turned on AND --maskped and --maskdat are specified (I know ...) it compares only the following subset of the overlapping genotypes: genotypes either not found (i.e., individual or marker not included) or missing (included but with value 0/0, N/N, ./. etc) in --maskped / --maskdat. These options are useful when some individuals were masked for some SNPs while others masked for a different set of SNPs.
-= example command lines  =
-  CalcMatch --trueped true.ped --truedat true.dat --impped imp.ped --impdat imp.dat -o CalcMatch.Output --byPerson
-Will generate CalcMatch.Output.bySNP (6 fields only) and CalcMatch.Output.byPerson.
-  CalcMatch --trueped true.ped --truedat true.dat --impped imp.ped --impdat imp.dat -o CalcMatch.Output --byGeno --byPerson
-Will generate CalcMatch.Output.bySNP (6+20 fields) and CalcMatch.Output.byPerson.
-  CalcMatch --trueped true.ped --truedat true.dat --impped imp.ped --impdat imp.dat -o CalcMatch.Output --accuracyByGeno --byPerson
-Will generate CalcMatch.Output.bySNP (6+6 fields only) and CalcMatch.Output.byPerson.
-  CalcMatch --trueped true.ped --truedat true.dat --impped imp.ped --impdat imp.dat -o CalcMatch.Output --accuracyByGeno --byGeno --byPerson
-Will generate CalcMatch.Output.bySNP (6+20+6 fields only) and CalcMatch.Output.byPerson.

Difference between revisions of "Haploxt"