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