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README.txt

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############################################################################################
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############################################################################################
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#### Copyright (c) 2017, Broad Institute
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#### Redistribution and use in source and binary forms, with or
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without
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#### modification, are permitted provided that the following
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conditions are
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#### met:
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#### Redistributions of source code must retain the above
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copyright
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#### notice, this list of conditions and the following disclaimer.
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#### Redistributions in binary form must reproduce the above
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copyright
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#### notice, this list of conditions and the following disclaimer
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in
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#### the documentation and/or other materials provided with the
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#### distribution.
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#### Neither the name of the Broad Institute nor the names of its
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#### contributors may be used to endorse or promote products
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#### derived
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#### from this software without specific prior written permission.
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#### THIS SOFTWARE IS PROVIDED BY THE COPYRIGHT HOLDERS AND
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CONTRIBUTORS
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#### "AS IS" AND ANY EXPRESS OR IMPLIED WARRANTIES, INCLUDING, BUT NOT
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#### LIMITED TO, THE IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS
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FOR
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#### A PARTICULAR PURPOSE ARE DISCLAIMED. IN NO EVENT SHALL THE
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COPYRIGHT
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#### HOLDER OR CONTRIBUTORS BE LIABLE FOR ANY DIRECT, INDIRECT,
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INCIDENTAL,
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#### SPECIAL, EXEMPLARY, OR CONSEQUENTIAL DAMAGES (INCLUDING, BUT NOT
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#### LIMITED TO, PROCUREMENT OF SUBSTITUTE GOODS OR SERVICES; LOSS OF
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USE,
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#### DATA, OR PROFITS; OR BUSINESS INTERRUPTION) HOWEVER CAUSED AND ON
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ANY
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#### THEORY OF LIABILITY, WHETHER IN CONTRACT, STRICT LIABILITY, OR
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TORT
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#### (INCLUDING NEGLIGENCE OR OTHERWISE) ARISING IN ANY WAY OUT OF THE
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USE
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#### OF THIS SOFTWARE, EVEN IF ADVISED OF THE POSSIBILITY OF SUCH
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DAMAGE.
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############################################################################################
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############################################################################################
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######################################################################################################
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####### MSMuTect - Calling somatic MS indels
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######################################################################################################
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####### For details on the implementation
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####### see YE Maruvka, Mouw K, et al, Analysis of somatic
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microsatellite indels identifies driver events in human tumors
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####### Nat. Biotechnology (2017) DOI: *****
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#
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# Written by Yosef E. Maruvka and Gad Getz
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#
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#############################################
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It needs the following tools:
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1. Bedtools
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2. Samtools
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3. Bowtie2
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4. R 2.15.3 (or similar but bot R 3.)
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5. Python-2.7 .
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6. PHOBOS. It should be obtained from
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http://www.ruhr-uni-bochum.de/ecoevo/cm/cm_phobos.htm and be placed
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under the bin/ folder.
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The command needed to be run from the MSMuTect directory (the needed
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tools are in bin/ folder and the data is in reference/ folder)
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MSMuTect has two step:
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1. Allele calling per sample
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sh bin/shell_for_all.sh sample_ID BAM_file_PATH BAM_file_ID
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e.g.:
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sh bin/shell_for_all.sh Normal data/ Normal.bam
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sh bin/shell_for_all.sh Tumor data/ Tumor.bam
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2. MS_indel calling (per pair)
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sh bin/ms_indel_calling.sh
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This step needs a file (space delimited, called Pairs2.ls in the
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MSMuTect folder) that specifies the pairs for calling mutations.
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E.g.
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Tumor Normal
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The output MS indels will be under the Tumor folder (e.g. Tumor).
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The format is a tab delimited maf_like file for every motif.
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The "Decision" column for every candidat indel is:
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1 - passed the threshold
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0 - did not pass the threshold
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-1 - filtered due to the normal sample have two alleles with one
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having a to low fraction
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-2 - filtered due to the normal sample have more than two alleles
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-3 - filtered due to not passing the KS-test
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The current reference loci are on hg19 and includes the exome territory
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only.
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For comments suggstions or errors please contact
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maruvka@broadinstitute.org
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