-=- MUMmer3.x README -=-
** NOTE ** A comprehensive HTML user manual is available in the docs/web/manual subdirectory or at http://mummer.sourceforge.net/manual
MUMmer is now an open source package! Please contact us if you would like to contribute to the MUMmer project. For more information or the latest release please visit the MUMmer homepage at http://mummer.sourceforge.net
Please refer to the INSTALL file for installation instructions. This file contains brief descriptions of all executables in the base directory and general information about the MUMmer package.
-- DESCRIPTION -- MUMmer is a system for rapidly aligning entire genomes. The current version (release 3.0) can find all 20 base pair maximal exact matches between two bacterial genomes of ~5 million base pairs each in 20 seconds, using 90 MB of memory, on a typical 1.8 GHz Linux desktop computer. MUMmer can also align incomplete genomes; it handles the 100s or 1000s of contigs from a shotgun sequencing project with ease, and will align them to another set of contigs or a genome, using the nucmer utility included with the system. The promer utility takes this a step further by generating alignments based upon the six-frame translations of both input sequences. promer permits the alignment of genomes for which the proteins are similar but the DNA sequence is too divergent to detect similarity. See the nucmer and promer readme files in the "docs/" subdirectory for more details. MUMmer is open source, so all we ask is that you cite our most recent paper in any publications that use this system:
(Version 3.0 described)
Versatile and open software for comparing large genomes. S. Kurtz, A. Phillippy, A.L. Delcher, M. Smoot, M. Shumway, C. Antonescu, and S.L. Salzberg. Genome Biology (2004), 5:R12.
(Version 2.1 described)
Fast algorithms for large-scale genome alignment and comparison. A.L. Delcher. A. Phillippy, J. Carlton, and S.L. Salzberg. Nucleic Acids Research 30:11 (2002), 2478-2483.
(Version 1.0 described)
Alignment of Whole Genomes. A.L. Delcher, S. Kasif, R.D. Fleischmann, J. Peterson, O. White, and S.L. Salzberg. Nucleic Acids Research, 27:11 (1999), 2369-2376.
-- RUNNING MUMmer3.0 -- MUMmer3.0 is comprised of many various utilities and scripts. For general purposes, the scripts "run-mummer1", "run-mummer3", "nucmer", and "promer" will be all that is needed. See their descriptions in the "RUNNING THE MUMmer SCRIPTS" section, or refer to their individual documentation in the "docs/" subdirectory. Refer to the "RUNNING THE MUMmer UTILITIES" section for a brief description of all of the utilities in this directory.
Simple use case: Given a file containing a single reference sequence (ref.seq) in FASTA format and another file containing multiple sequences in FastA format (qry.seq) type the following at the command line:
'./nucmer -p ref.seq qry.seq'
To produce the following files: .delta
or
'./run-mummer3.csh ref.seq qry.seq '
To produce the following files: .out .gaps .align .errorsgaps
Please read the utility-specific documentation in the "docs/" subdirectory for descriptions of these files and information on how to change the alignment parameters for the scripts (minimum match length, etc.), or see the notes below in the "RUNNING THE MUMmer SCRIPTS" section for a brief explanation.
To see a simple gnuplot output, if you have gnuplot installed, run the perl script 'mummerplot' on the output files. This script can be run on mummer output (.out), or nucmer/promer output (.delta). Edit the .gp file that is created to change colors, line thicknesses, etc. or explore the .[fr]plot file to see the data collection.
'./mummerplot -p .out'
Or you can use the web viewer for completed microbial genomes: http://www.tigr.org/CMR
-- RUNNING THE MUMmer SCRIPTS -- Because of MUMmer's modular design, it may be necessary to use a number of separate programs to produce the desired output. The MUMmer scripts attempt to simplify this process by wrapping various utilities into packages that can perform standard alignment requests. Listed below are brief descriptions and usage definitions for these scripts. Please refer to the "docs/" subdirectory for a more detailed description of each script.
** nucmer **
DESCRIPTION:
nucmer is for the all-vs-all comparison of nucleotide sequences
contained in multi-FastA data files. It is best used for highly
similar sequence that may have large rearrangements. Common use
cases are: comparing two unfinished shotgun sequencing assemblies,
mapping an unfinished sequencing assembly to a finished genome, and
comparing two fairly similar genomes that may have large
rearrangements and duplications. Please refer to "docs/nucmer.README"
for more information regarding this script and its output, or type
'nucmer -h' for a list of its options.
USAGE:
nucmer [options] <reference> <query>
[options] type 'nucmer -h' for a list of options.
<reference> specifies the multi-FastA sequence file that contains
the reference sequences, to be aligned with the queries.
<query> specifies the multi-FastA sequence file that contains
the query sequences, to be aligned with the references.
OUTPUT:
out.delta the delta encoded alignments between the reference and
query sequences. This file can be parsed with any of
the show-* programs which are described in the "RUNNING
THE MUMmer UTILITIES" section.
NOTES:
All output coordinates reference the forward strand of the involved
sequence, regardless of the match direction. Also, nucmer now uses
only matches that are unique in the reference sequence by default,
use the '--mum' or '--maxmatch' options to change this behavior.
** promer **
DESCRIPTION:
promer is for the protein level, all-vs-all comparison of nucleotide
sequences contained in multi-FastA data files. The nucleotide input
files are translated in all 6 reading frames and then aligned to one
another via the same methods as nucmer. It is best used for highly
divergent sequences that may have moderate to high similarity on the
protein level. Common use cases are: identifying syntenic regions
between highly divergent genomes, comparative genome annotation i.e.
using an already annotated genome to help in the annotation of a
newly sequenced genome, and the general comparison of two fairly
divergent genomes that have large rearrangements and may only be
similar on the protein level. Please refer to "docs/promer.README"
for more information regarding this script and its output, or type
'promer -h' for a list of its options.
USAGE:
promer [options] <reference> <query>
[options] type 'promer -h' for a list of options.
<reference> specifies the multi-FastA sequence file that contains
the reference sequences, to be aligned with the queries.
<query> specifies the multi-FastA sequence file that contains
the query sequences, to be aligned with the references.
OUTPUT:
out.delta the delta encoded alignments between the reference and
query sequences. This file can be parsed with any of
the show-* programs which are described in the "RUNNING
THE MUMmer UTILITIES" section.
NOTES:
All output coordinates reference the forward strand of the involved
sequence, regardless of the match direction, and are measured in
nucleotides with the exception of the delta integers which are
measured in amino acids (1 delta int = 3 nucleotides). Also, promer
now uses only matches that are unique in the reference sequence by
default, use the '--mum' or '--maxmatch' options to change this
behavior.
** run-mummer1 **
DESCRIPTION:
This script is taken directly from MUMmer1.0 and is best used to
align two sequences in which there is high similarity and no re-
arrangements. Common use cases are: aligning two finished bacterial
chromosomes. Please refer to "docs/run-mummer1.README" for the
original documentation for this script and its output.
USAGE:
run-mummer1 <seq1> <seq2> <tag> [-r]
<seq1> specifies the file with the first sequence in FastA format.
No more than one sequence is allowed.
<seq2> specifies the file with the second sequence in FastA format.
No more than one sequence is allowed.
<tag> specifies the prefix to be used for the output files.
[-r] is an optional parameter that will reverse complement the
second sequence.
OUTPUT:
out.align the out.gaps file interspersed with the alignments
of the gaps.
out.errorsgaps the out.gaps file with an extra column stating the
number of errors contained in each gap.
out.gaps an ordered (clustered) list of matches with position
information, and gap distances between each match.
out.out a list of all maximal unique matches between the two
input sequences ordered by their start position in the
second sequence.
NOTES:
All output coordinates reference their respective strand. This means
that if the -r switch is active, coordinates that reference the
second sequence will be relative to the reverse complement of the
second sequence. Please use nucmer or promer if this coordinate
system is confusing.
Eventually, this script's components will be rewritten to work
with the new MUMmer format standards and phased out in favor of the
new components and wrapping script.
** run-mummer3 **
DESCRIPTION:
This script is the improved version of the MUMmer1.0 run-mummer1
script. It uses a new clustering algorithm that appropriately
handles multiple sequence rearrangements and inversions. Because
of this, it can handle more divergent sequences better than
run-mummer1. In addition, it allows a multi-FastA query file for
1-vs-many sequence comparisons. Please refer to
"docs/run-mummer3.README" for more detailed documentation of this
script and its output.
USAGE:
run-mummer3 <reference> <query> <prefix>
<reference> specifies the file with the reference sequence in FastA
format. No more than one sequence is allowed.
<query> specifies the multi-FastA sequence file that contains
the query sequences.
<prefix> specifies the file prefix for the output files.
OUTPUT:
out.align the out.gaps file interspersed with the alignments
of the gaps.
out.errorsgaps the out.gaps file with an extra column stating the
number of errors contained in each gap.
out.gaps an ordered (clustered) list of matches with position
information, and gap distances between each match.
out.out a list of all maximal unique matches between the two
input sequences ordered by their start position in the
second sequence.
NOTES:
All output coordinates reference their respective strand. This means
that for all reverse matches, the coordinates that reference the
query sequence will be relative to the reverse complement of the
query sequence. Please use nucmer or promer if this coordinate
system is confusing.
** dnadiff **
DESCRIPTION:
This script is a wrapper around nucmer that builds an
alignment using default parameters, and runs many of nucmer's
helper scripts to process the output and report alignment
statistics, SNPs, breakpoints, etc. It is designed for
evaluating the sequence and structural similarity of two
highly similar sequence sets. E.g. comparing two different
assemblies of the same organism, or comparing two strains of
the same species. Please refer to "docs/dnadiff.README" for
more information regarding this script and its output, or type
'dnadiff -h' for a list of its options.
USAGE: dnadiff [options] <reference> <query>
or dnadiff [options] -d <delta file>
<reference> Set the input reference multi-FASTA filename
<query> Set the input query multi-FASTA filename
or
<delta file> Unfiltered .delta alignment file from nucmer
OUTPUT:
.report - Summary of alignments, differences and SNPs
.delta - Standard nucmer alignment output
.1delta - 1-to-1 alignment from delta-filter -1
.mdelta - M-to-M alignment from delta-filter -m
.1coords - 1-to-1 coordinates from show-coords -THrcl .1delta
.mcoords - M-to-M coordinates from show-coords -THrcl .mdelta
.snps - SNPs from show-snps -rlTHC .1delta
.rdiff - Classified ref breakpoints from show-diff -rH .mdelta
.qdiff - Classified qry breakpoints from show-diff -qH .mdelta
.unref - Unaligned reference IDs and lengths (if applicable)
.unqry - Unaligned query IDs and lengths (if applicable)
NOTES:
The report file generated by this script can be useful for
comparing the differences between two similar genomes or
assemblies. The other outputs generated by this script are in
unlabeled tabular format, so please refer to the utility
specific documentation for interpreting them. A full
description of the report file is given in "docs/dnadiff.README".
-- RUNNING THE MUMmer UTILITIES -- The MUMmer package consists of various utilities that can interact with the 'mummer' program. 'mummer' performs all maximal and maximal unique matching, and all other utilities were designed to process the input and output of this program and its related scripts, in order to extract additional information from the output. Listed below are the descriptions and usage definitions for these utilities.
** annotate **
DESCRIPTION:
This program reads the output of the 'gaps' program and adds alignment
information to it. Part of the original MUMmer1.0 pipeline and can
only be used on the output of the 'gaps' program.
USAGE:
annotate <gapsfile> <seq2>
<gapsfile> the output of the 'gaps' program.
<seq2> the file containing the second sequence in the comparison.
OUTPUT:
stdout the 'gaps' output interspersed with the alignments of
the gaps between adjacent MUMs. An alignment of a
gap comes after the second MUM defining the gap, and
alignment errors are marked with a '^' character.
witherrors.gaps the 'gaps' output with an appended column that lists
the number of alignment errors for each gap.
NOTES:
This program will eventually be dropped in favor of the combineMUMs
or nucmer match extenders, but persists for the time being.
** combineMUMs **
DESCRIPTION:
This program reads the output of the 'mgaps' program and adds alignment
information to it. Part of the MUMmer3.0 pipeline and can only be
used on the output of the 'mgaps' program. This -D option alters this
behavior and only outputs the positions of difference, e.g. SNPs.
USAGE:
combineMUMs [options] <reference> <query> <mgapsfile>
[options] type 'combineMUMs -h' for a list of options.
<reference> the FastA reference file used in the comparison.
<query> the multi-FastA reference file used in the comparison.
<mgapsfile> the output of the 'mgaps' program run on the match
list produced by 'mummer' for the reference and query
files.
OUTPUT:
stdout the 'mgaps' output interspersed with the alignments
of the gaps between adjacent MUMs. An alignment of a
gap comes after the second MUM defining the gap, and
alignment errors are marked with a '^' character. At
the end of each cluster is a summary line (keyword
"Region") noting the bounds of the cluster in the
reference and query sequences, the total number of
errors for the region, the length of the region and
the percent error of the region.
witherrors.gaps the 'mgaps' output with an appended column that lists
the number of alignment errors for each gap.
** delta-filter **
DESCRIPTION:
This program filters a delta alignment file produced by either
nucmer or promer, leaving only the desired alignments which
are output to stdout in the same delta format as the
input. Its primary function is the LIS algorithm which
calculates the longest increasing subset of alignments. This
allows for the calculation of a global set of alignments
(i.e. 1-to-1 and mutually consistent order) with the -g option
or locally consistent with -1 or -m. Reference sequences can
be mapped to query sequences with -r, or queries to references
with -q. This allows the user to exclude chance and repeat
induced alignments, leaving only the "best" alignments between
the two data sets. Filtering can also be performed on length,
identity, and uniquenes.
USAGE:
delta-filter [options] <deltafile>
[options] type 'delta-filter -h' for a list of options.
<deltafile> the .delta output file from either nucmer or promer.
OUTPUT:
stdout The same delta alignment format as output by nucmer and promer.
NOTES:
For most cases the -m option is recommended, however -1 is
useful for applications that require a 1-to-1 mapping, such as
SNP finding. Use the -q option for mapping query contigs to
their best reference location.
** exact-tandems **
DESCRIPTION:
This script finds exact tandem repeats in a specified FastA sequence
file. It is a post-processor for 'repeat-match' and provides a simple
interface and output for tandem repeat detection.
USAGE:
exact-tandems <file> <min match>
<file> the single sequence in FastA format to search for repeats.
<min match> the minimum match length for the tandems.
OUTPUT:
stdout 4 columns, the start of the tandem repeat, the total extent
of the repeat region, the length of each repetitive unit, and
to total copies of the repetitive unit involved.
** gaps **
DESCRIPTION:
This program reads a list of unique matches between two strings and
outputs the longest consistent set of matches, followed by all the
other matches. Part of the MUMmer1.0 pipeline and the output of the
'mummer' program needs to be processed (to strip all non-match lines)
before it can be passed to this program.
USAGE:
gaps <seq1> [-r] < <matchlist>
<seq1> The first sequence file that the match list represents.
<matchlist> A simple list of matches and NO header lines or other
mumbo jumbo. The columns of the match list should be
start in the reference, start in the query, and length
of the match.
[-r] Simply puts the string "reverse" on the header of the
output so 'annotate' knows to reverse the second
sequence.
OUTPUT:
stdout an ordered set of the input matches, separated by headers.
The first set is the longest consistent set of matches and
the second set is all other matches.
NOTES:
This program will eventually be rewritten to be interchangeable with
'mgaps', so that it may be plugged into the nucmer or promer
pipelines.
** mapview **
DESCRIPTION:
mapview is a utility program for displaying sequence alignments as
provided by MUMmer, nucmer or promer. This program takes the output
from these alignment routines and converts it to a FIG, PDF or PS
file for visual analysis. It can also break the output into multiple
files for easier viewing and printing. Please refer to
"docs/mapview.README" for a more detailed description and explination.
USAGE:
mapview [options] <coords file> [UTR coords] [CDS coords]
[options] type 'mapview -h' for a list of options.
<coords file> show-coords output file
[UTR coords] UTR coordinate file in GFF format
[CDS coords] CDS coordinate file in GFF format
OUTPUT:
Default output format is an xfig file, however this can be changed to
a postscript of PDF file with the -f option. See 'mapview -h' for a
list of available formatting options.
NOTES:
The produce the coords file input, 'show-coords' must be run with the
-r -l options. To reduce redundant matches in promer output, run
show-coords with the -k option. To generate output formats other than
xfig, the fig2dev utility must be available from the system path. For
very large reference genomes, FIG format may be the only option that
will allow the entire display to be stored in one file, as fig2dev has
problems if the output is too large.
** mgaps **
DESCRIPTION:
This program reads a list of matches between a single-FastA reference
and a multi-FastA query file and outputs clusters of matches that lie
on similar diagonals and within a reasonable distance. Part of the
MUMmer3.0 pipeline and the output of 'mummer' need not be processed
before passing it to this program, so long as 'mummer' was run on a
1-vs-many or 1-vs-1 dataset.
USAGE:
mgaps [options] < <matchlist>
[options] type 'mgaps -h' for a list of options.
<matchlist> A list of matches separated by their sequence FastA tags.
The columns of the match list should be start in
reference, start in query, and length of the match.
OUTPUT:
stdout An ordered set of the input matches, separated by headers.
Individual clusters are separated by a '#' character and
sets of clusters from different sequences are separated by
the FastA header tag for the query sequence.
NOTES:
It is often very helpful to adjust the clustering parameters. Check
'mgaps -h' for the list of parameters and check the source for a
better idea of how each parameter affects the result. Often, it is
helpful to run this program a number of times with different
parameters until the desired result is achieved.
** mummer **
DESCRIPTION:
This is the core program of the MUMmer package. It is the suffix-tree
based match finding routine, and the main part of every MUMmer script.
For a detailed manual describing how to use this program, please refer
to "docs/maxmat3man.pdf" or in LaTeX format "docs/maxmat3man.tex". By
default, 'mummer' now finds maximal matches regardless of their
uniqueness. Limiting the output to only unique matches can be specified
as a command line switch.
USAGE:
mummer [options] <reference> <query> ...
[options] type 'mummer -help' for a list of options.
<reference> specifies the single or multi-FastA sequence file that
contains the reference sequence(s), to be aligned with
the queries.
<query> specifies the multi-FastA sequence file that contains
the query sequences, to be aligned with the references.
Multiple query files are allowed, up to 32.
OUTPUT:
stdout a list of exact matches. Varies depending on input, refer to
the manual specified in the description above.
NOTES:
Many thanks to Stefan Kurtz for the latest mummer version. 'mummer'
now behaves like the old 'mummer2' program by default. The -mum switch
forces it to behave like 'mummer1', the -mumreference switch forces it
to behave like 'mummer2' while the -maxmatch switch forces it to behave
like the old 'max-match' program.
** mummerplot **
DESCRIPTION:
mummerplot is a perl script that generates gnuplot scripts and data
collections for plotting with the gnuplot utility. It can generate
2-d dotplots and 1-d coverage plots for the output of mummer, nucmer,
promer or show-tiling. It can also color dotplots with an identity
color gradient.
USAGE:
mummerplot [options] <matchfile>
[options] type 'mummerplot -h' for a list of options.
<matchfile> the output of 'mummer', 'nucmer', 'promer', or
'show-tiling'. 'mummerplot' will automatically determine
the format of the data it was given and produce the plot
accordingly.
OUTPUT:
out.gp The gnuplot script, type 'gnuplot out.gp' to evaluate the
the gnuplot script.
out.fplot
out.rplot
out.hplot The forward, reverse and highlighted match information for
plotting with gnuplot.
out.ps
out.png The plotted image file, postscript or png depending on the
selected terminal type.
NOTES:
For alignments with multiple reference or query sequences, be sure to
use the -r -q or -R -Q options to avoid overlaying multiple plots in
the same space. For better looking color gradient plots, try the
postscript terminal and avoid the png terminal.
** nucmer2xfig **
DESCRIPTION:
Script for plotting nucmer hits against a reference sequence. See top
of script for more information, or see if 'mummerplot' or 'mapview'
has the functionality required as they are properly maintained.
** repeat-match **
DESCRIPTION:
Finds exact repeats within a single sequence.
USAGE:
repeat-match [options] <seq>
[options] type 'repeat-match -h' for a list of options.
<seq> the single sequence in FastA format to search for repeats.
OUTPUT:
stdout 3 columns, the start of the first copy of the repeat, the
start of the second copy of the repeat, and the length of the
repeat respectively.
NOTES:
REPuter (freely available for universities) may be better suited for
most repeat matching, but 'repeat-match' is open-source and has some
functionality that REPuter does not so we include it along with the
MUMmer package.
** show-aligns **
DESCRIPTION:
This program parses the delta alignment output of nucmer and promer
and displays all of the pairwise alignments from the two sequences
specified on the command line.
USAGE:
show-aligns [options] <deltafile> <IdR> <IdQ>
[options] type 'show-aligns -h' for a list of options.
<deltafile> the .delta output file from either nucmer or promer.
<IdR> the FastA header tag of the desired reference sequence.
<IdQ> the FastA header tag of the desired query sequence.
OUTPUT:
stdout each alignment header and footer describes the frame of the
alignment in each sequence, and the start and finish
(inclusive) of the alignment in each sequence. At the
beginning of each line of aligned sequence are two numbers, the
top is the coordinate of the first reference base on that line
and the bottom is the coordinate of the first query base on
that line. ALL coordinates reference the forward strand of the
DNA sequence, even if it is a protein alignment. A gap caused
by an insertion or deletion is filled with a '.' character.
Errors in a DNA alignment are marked with a '^' below the
error. Errors in an amino acid alignment are marked with a
whitespace in the middle consensus line, while matches are
marked with the consensus base and similarities are marked with
a '+' in the consensus line.
** show-coords **
DESCRIPTION:
This program parses the delta alignment output of nucmer and promer
and displays the coordinates, and other useful information about the
alignments.
USAGE:
show-coords [options] <deltafile>
[options] type 'show-coords -h' for a list of options.
<deltafile> the .delta output file from either nucmer or promer.
OUTPUT:
stdout run 'show-coords' without the -H option to see the column
header tags. Here is a description of each tag. Note that
some of the below tags do not apply to nucmer data, and that
all coordinates are inclusive and relative to the forward DNA
strand.
[S1] Start of the alignment region in the reference sequence.
[E1] End of the alignment region in the reference sequence.
[S2] Start of the alignment region in the query sequence.
[E2] End of the alignment region in the query sequence.
[LEN 1] Length of the alignment region in the reference sequence,
measured in nucleotides.
[LEN 2] Length of the alignment region in the query sequence, measured
in nucleotides.
[% IDY] Percent identity of the alignment, calculated as the
(number of exact matches) / ([LEN 1] + insertions in the query).
[% SIM] Percent similarity of the alignment, calculated like the above
value, but counting positive BLOSUM matrix scores instead of exact
matches.
[% STP] Percent of stop codons of the alignment, calculated as
(number of stop codons) / (([LEN 1] + insertions in the query) * 2).
[LEN R] Length of the reference sequence.
[LEN Q] Length of the query sequence.
[COV R] Percent coverage of the alignment on the reference sequence,
calculated as [LEN 1] / [LEN R].
[COV Q] Percent coverage of the alignment on the query sequence,
calculated as [LEN 2] / [LEN Q].
[FRM] Reading frame for the reference sequence and the reading frame
for the query sequence respectively. This is one of the columns
absent from the nucmer data, however, match direction can easily be
determined by the start and end coordinates.
[TAGS] The reference FastA ID and the query FastA ID.
There is also an optional final column (turned on with the -w
or -o option) that will contain some 'annotations'. The -o option will
annotate alignments that represent overlaps between two sequences,
while the -w option is antiquated and should no longer be used.
Sometimes, nucmer or promer will extend adjacent clusters past one
another, thus causing a somewhat redundant output, this option will
notify users of such rare occurrences.
NOTES:
The -c and -l options are useful when comparing two sets of assembly
contigs, in that these options help determine if an alignment spans an
entire contig, or is just a partial hit to a different read. The -b
option is useful when the user wishes to identify sytenic regions
between two genomes, but is not particularly interested in the actual
alignment similarity or appearance. This option also disregards match
orientation, so should not be used if this information is needed.
** show-diff **
DESCRIPTION:
This program classifies alignment breakpoints for the
quantification of macroscopic differences between two
genomes. It takes a standard, unfiltered delta file as input,
determines the best mapping between the two sequence sets, and
reports on the breaks in that mapping.
USAGE:
show-diff [options] <deltafile>
[options] type 'show-diff -h' for a list of options.
<deltafile> the .delta output file from nucmer
OUTPUT:
stdout Classified breakpoints are output one per line with
the following types and column definitions. The first
five columns of every row are seq ID, feature type,
feature start, feature end, and feature length.
Feature Columns
IDR GAP gap-start gap-end gap-length-R gap-length-Q gap-diff
IDR DUP dup-start dup-end dup-length
IDR BRK gap-start gap-end gap-length
IDR JMP gap-start gap-end gap-length
IDR INV gap-start gap-end gap-length
IDR SEQ gap-start gap-end gap-length prev-sequence next-sequence
Feature Types
[GAP] A gap between two mutually consistent ordered and
oriented alignments. gap-length-R is the length of the
alignment gap in the reference, gap-length-Q is the length of
the alignment gap in the query, and gap-diff is the difference
between the two gap lengths. If gap-diff is positive, sequence
has been inserted in the reference. If gap-diff is negative,
sequence has been deleted from the reference. If both
gap-length-R and gap-length-Q are negative, the indel is
tandem duplication copy difference.
[DUP] A duplicated sequence in the reference that occurs more
times in the reference than in the query. The coordinate
columns specify the bounds and length of the
duplication. These features are often bookended by BRK
features if there is unique sequence bounding the duplication.
[BRK] An insertion in the reference of unknown origin, that
indicates no query sequence aligns to the sequence bounded by
gap-start and gap-end. Often found around DUP elements or at
the beginning or end of sequences.
[JMP] A relocation event, where the consistent ordering of
alignments is disrupted. The coordinate columns specify the
breakpoints of the relocation in the reference, and the
gap-length between them. A negative gap-length indicates the
relocation occurred around a repetitive sequence, and a
positive length indicates unique sequence between the
alignments.
[INV] The same as a relocation event, however both the
ordering and orientation of the alignments is disrupted. Note
that for JMP and INV, generally two features will be output,
one for the beginning of the inverted region, and another for
the end of the inverted region.
[SEQ] A translocation event that requires jumping to a new
query sequence in order to continue aligning to the
reference. If each input sequence is a chromosome, these
features correspond to inter-chromosomal translocations.
NOTES:
The estimated number of features, take inversions for example,
represents the number of breakpoints classified as bordering
an inversion. Therefore, since there will be a breakpoint at
both the beginning and the end of an inversion, the feature
counts are roughly double the number of inversion events. In
addition, all counts are estimates and do not represent the
exact number of each evolutionary event.
Summing the fifth column (ignoring negative values) yeilds an
estimate of the total inserted sequence in the
reference. Summing the fifth column after removing DUP
features yields an estimate of the total amount of unique
(unaligned) sequence in the reference. Note that unaligned
sequences are not counted, and could represent additional
"unique" sequences. Use the 'dnadiff' script if you must
recover this information. Finally, the -q option switches
references for queries, and uses the query coordinates for the
analysis.
** show-snps **
DESCRIPTION:
This program reports polymorphism contained in a delta encoded
alignment file output by either nucmer or promer. It catalogs
all of the single nucleotide polymorphisms (SNPs) and
insertions/deletions within the delta file
alignments. Polymorphisms are reported one per line, in a
delimited fashion similar to show-coords. Pairing this program
with the appropriate MUMmer tools can create an easy to use
SNP pipeline for the rapid identification of putative SNPs
between any two sequence sets.
USAGE:
show-snps [options] <deltafile>
[options] type 'show-snps -h' for a list of options.
<deltafile> the .delta output file from either nucmer or promer.
OUTPUT:
stdout Standard output has column headers with the following
meanings. Not all columns will be output by default,
see 'show-snps -h' for switch to control the output.
[P1] SNP position in the reference.
[SUB] Character in the reference.
[SUB] Character in the query.
[P2] SNP position in the query.
[BUFF] Distance from this SNP to the nearest mismatch (end of
alignment, indel, SNP, etc) in the same alignment.
[DIST] Distance from this SNP to the nearest sequence end.
[R] Number of repeat alignments which cover this reference
position, >0 means repetitive sequence.
[Q] Number of repeat alignments which cover this query
position, >0 means repetitive sequence.
[LEN R] Length of the reference sequence.
[LEN Q] Length of the query sequence.
[CTX R] Surrounding context sequence in the reference.
[CTX Q] Surrounding context sequence in the query.
[FRM] Reading frame for the reference sequence and the
reading frame for the query sequence respectively. Simply
'forward' 1, or 'reverse' -1 for nucmer data.
[TAGS] The reference FastA ID and the query FastA ID.
NOTES:
It is often helpful to run this with the -C option to assure
reported SNPs are only reported from uniquely aligned regions.
** show-tiling **
DESCRIPTION:
This program attempts to construct a tiling path out of the query
contigs as mapped to the reference sequences. Given the delta
alignment information of a few long reference sequences and many small
query contigs, 'show-tiling' will determine the best location on a
reference for each contig. Note that each contig may only be tiled
once, so repetitive regions may cause this program some difficulty.
This program is useful for aiding in the scaffolding and closure of an
unfinished set of contigs, if a suitable, high similarity, reference
genome is available. Or, if using promer, 'show-tiling' will help
in the identification of syntenic regions and their contig's mapping
the the references.
USAGE:
show-tiling [options] <deltafile>
[options] type 'show-tiling -h' for a list of options.
<deltafile> the .delta output file from either nucmer or promer.
OUTPUT:
stdout Standard output has 8 columns: start in reference, end in
reference, gap between this contig and the next, length of this
contig, alignment coverage of this contig, average percent
identity of the alignments for this contig, orientation of this
contig, contig ID. All matches to a reference are headed by the
FASTA tag of that reference. Output with the -a option is the
same as 'show-coords -cl' when run on nucmer data.
NOTES:
When run with the -x option, 'show-tiling' will produce an XML output
format that can be accepted by TIGR's open source scaffolding software
'Bambus' as contig linking information.
-- CONTACT INFORMATION --
Please address questions and bug reports to: [email protected]
Last Revised May 12, 2005