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Updated man page
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pd3 committed Dec 2, 2016
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.\" Title: bcftools
.\" Author: [see the "AUTHORS" section]
.\" Generator: DocBook XSL Stylesheets v1.76.1 <http://docbook.sf.net/>
.\" Date: 2016-11-29 20:14 GMT
.\" Date: 2016-12-02 07:14 GMT
.\" Manual: \ \&
.\" Source: \ \&
.\" Language: English
.\"
.TH "BCFTOOLS" "1" "2016\-11\-29 20:14 GMT" "\ \&" "\ \&"
.TH "BCFTOOLS" "1" "2016\-12\-02 07:14 GMT" "\ \&" "\ \&"
.\" -----------------------------------------------------------------
.\" * Define some portability stuff
.\" -----------------------------------------------------------------
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BCFtools is designed to work on a stream\&. It regards an input file "\-" as the standard input (stdin) and outputs to the standard output (stdout)\&. Several commands can thus be combined with Unix pipes\&.
.SS "VERSION"
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This manual page was last updated \fB2016\-11\-29 20:14 GMT\fR and refers to bcftools git version \fB1\&.3\&.1\-178\-gd307e82+\fR\&.
This manual page was last updated \fB2016\-12\-02 07:14 GMT\fR and refers to bcftools git version \fB1\&.3\&.1\-181\-g2f85bd6+\fR\&.
.SS "BCF1"
.sp
The BCF1 format output by versions of samtools <= 0\&.1\&.19 is \fBnot\fR compatible with this version of bcftools\&. To read BCF1 files one can use the view command from old versions of bcftools packaged with samtools versions <= 0\&.1\&.19 to convert to VCF, which can then be read by this version of bcftools\&.
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The output VCF is annotated with INFO/BCSQ and FORMAT/BCSQ tag (configurable with the \fB\-c\fR option)\&. The latter is a bitmask of indexes to INFO/BCSQ, with interleaved haplotypes\&. See the usage examples below for using the %TBCSQ converter in \fBquery\fR for extracting a more human readable form from this bitmask\&. The contruction of the bitmask limits the number of consequences that can be referenced in the FORMAT/BCSQ tags\&. By default this is 16, but if more are required, see the \fB\-\-ncsq\fR option\&.
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The program requires on input a VCF/BCF file, the reference genome in fasta format (\fB\-\-fasta\-ref\fR) and genomic features in the GFF3 format downloadable from Ensembl website (\fB\-\-gff\-annot\fR), and outputs an annotated VCF/BCF file\&.
The program requires on input a VCF/BCF file, the reference genome in fasta format (\fB\-\-fasta\-ref\fR) and genomic features in the GFF3 format downloadable from the Ensembl website (\fB\-\-gff\-annot\fR), and outputs an annotated VCF/BCF file\&. Currently, only Ensembl GFF3 files are supported\&.
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By default, the input VCF should be phased\&. If phase is unknown, or only partially known, the \fB\-\-phase\fR option can be used to indicate how to handle unphased data\&. Alternatively, haplotype aware calling can be turned off with the \fB\-\-local\-csq\fR option\&.
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If conflicting (overlapping) variants within one haplotype are detected, a warning will be emitted and predictions will be based on only the first variant in the analysis\&.
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Symbolic alleles are not supported\&. They will remain unannotated in the output VCF and are ignored for the prediction analysis\&.
.PP
\fB\-c, \-\-custom\-tag\fR \fISTRING\fR
.RS 4
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