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| | This option defines the <font face=Courier>VCF</font face=Courier> file or <font face=Courier>M3VCF</font> file (DOES NOT support missing or multi-allelic variants now, will update soon). | | | This option defines the <font face=Courier>VCF</font face=Courier> file or <font face=Courier>M3VCF</font> file (DOES NOT support missing or multi-allelic variants now, will update soon). |
| |- | | |- |
− | | <font face=Courier>--check</font> | + | | <font face=Courier>--'''check'''</font> |
| | This option does some extra verification while reading M3VCF files. If your program crashed for some reason, try re-running it with this option ON and see if it gives an error message. | | | This option does some extra verification while reading M3VCF files. If your program crashed for some reason, try re-running it with this option ON and see if it gives an error message. |
| |} | | |} |
| + | |
| + | |
| | | |
| ===OUTPUT FILE OPTIONS=== | | ===OUTPUT FILE OPTIONS=== |
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| |} | | |} |
| | | |
− | ==INPUT FILE OPTIONS== | + | |
| + | |
| + | ==SITE FILTERING OPTIONS== |
| + | |
| + | |
| + | ===POSITION FILTERING=== |
| + | |
| + | {| border="1" cellpadding="2" |
| + | |- bgcolor="lightgray" |
| + | ! scope="col" width="350px" | Parameter |
| + | ! scope="col" width="1225px" | Description |
| + | |- |
| + | | <font face=Courier>--'''chr''' <chromosome></font> |
| + | | This option includes all sites with identifiers matching the value of <font face=Courier><chromosome></font face=Courier>. (m3vcftools only handles single chromosome files) |
| + | |- |
| + | | <font face=Courier>--'''from-bp''' <integer></font> <br> <font face=Courier>--'''to-bp''' <integer></font> |
| + | | This option specifies a '''lower / upper bound (inclusive)''' for the range of sites to be processed. This option must be used in conjunction with <font face=Courier>--'''chr''' </font>. |
| + | |- |
| + | | <font face=Courier>--'''positions''' <filename></font> <br> <font face=Courier>--'''exclude-positions''' <filename></font> |
| + | | This option is used to '''include / exclude''' a set of sites on the basis of list of positions in the given file. Each line of the input file should contain a (tab-separated) chromosome and position. The file can have comment lines that start with a "#", they will be ignored. Thus, <font face=Courier>M3VCF</font face=Courier> or <font face=Courier>VCF</font face=Courier> files can be used as <font face=Courier><filename></font face=Courier>. |
| + | |
| + | |} |
| + | |
| + | |
| + | ==OUTPUT OPTIONS== |
| + | |
| + | |
| + | ===OUTPUT ALLELE STATISTICS=== |
| | | |
| {| border="1" cellpadding="2" | | {| border="1" cellpadding="2" |
| |- bgcolor="lightgray" | | |- bgcolor="lightgray" |
− | ! scope="col" width="250px" | Parameter | + | ! scope="col" width="350px" | Parameter |
| ! scope="col" width="1225px" | Description | | ! scope="col" width="1225px" | Description |
| |- | | |- |
− | | <font face=Courier>--refHaps filename </font> | + | | <font face=Courier>--'''freq '''</font> |
− | | VCF file or <font face=Courier>M3VCF</font> file containing haplotype data for reference panel. | + | | This option outputs the allele frequency for each site in a file with suffix <font face=Courier>".frq"</font face=Courier>. |
| + | |- |
| + | | <font face=Courier>--'''counts '''</font> |
| + | | This option outputs the raw allele count for each site in a file with suffix <font face=Courier>".frq.count"</font face=Courier>. |
| + | |} |
| + | |
| + | |
| + | |
| + | ===OUTPUT LINKAGE (LD) STATISTICS=== |
| + | |
| + | {| border="1" cellpadding="2" |
| + | |- bgcolor="lightgray" |
| + | ! scope="col" width="350px" | Parameter |
| + | ! scope="col" width="1225px" | Description |
| + | |- |
| + | | <font face=Courier>--'''hap-r2'''</font> |
| + | | This option outputs summary of linkage disequilibrium (reported as r2, D and D' statistics using phased haplotypes) in a file with suffix <font face=Courier>".hap.ld"</font face=Courier>. These statistics are only calculated for phased, bi-allelic sites. |
| + | |- |
| + | | <font face=Courier>--'''ld-window''' <integer> </br> --'''ld-window-min''' <integer></font> |
| + | | This optional parameter defines the '''maximum / minimum''' number of variants between the variants being analyzed. |
| + | |- |
| + | | <font face=Courier>--'''ld-window-bp''' <integer> </br> --'''ld-window-bp-min''' <integer></font> |
| + | | This optional parameter defines the '''maximum / minimum''' number of physical bases between the variants being analyzed. |
| |- | | |- |
− | | <font face=Courier>--passOnly</font> | + | | <font face=Courier>--'''min-r2''' <float></font> |
− | | If ON, only variants will FILTER=PASS will be recorded from reference VCF file (does NOT work on <font face=Courier>M3VCF</font> files yet). | + | | This optional parameter sets a minimum value of r2, below with LD statistics are NOT reported. It can be used in conjunction with the above parameters. |
| |} | | |} |
| | | |