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| 1 | + |
| 2 | +############################################################################################ |
| 3 | +############################################################################################ |
| 4 | +#### Copyright (c) 2017, Broad Institute |
| 5 | +#### Redistribution and use in source and binary forms, with or |
| 6 | +without |
| 7 | +#### modification, are permitted provided that the following |
| 8 | +conditions are |
| 9 | +#### met: |
| 10 | + |
| 11 | +#### Redistributions of source code must retain the above |
| 12 | + copyright |
| 13 | +#### notice, this list of conditions and the following disclaimer. |
| 14 | + |
| 15 | +#### Redistributions in binary form must reproduce the above |
| 16 | + copyright |
| 17 | +#### notice, this list of conditions and the following disclaimer |
| 18 | + in |
| 19 | +#### the documentation and/or other materials provided with the |
| 20 | +#### distribution. |
| 21 | + |
| 22 | +#### Neither the name of the Broad Institute nor the names of its |
| 23 | +#### contributors may be used to endorse or promote products |
| 24 | +#### derived |
| 25 | +#### from this software without specific prior written permission. |
| 26 | + |
| 27 | +#### THIS SOFTWARE IS PROVIDED BY THE COPYRIGHT HOLDERS AND |
| 28 | + CONTRIBUTORS |
| 29 | +#### "AS IS" AND ANY EXPRESS OR IMPLIED WARRANTIES, INCLUDING, BUT NOT |
| 30 | +#### LIMITED TO, THE IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS |
| 31 | + FOR |
| 32 | +#### A PARTICULAR PURPOSE ARE DISCLAIMED. IN NO EVENT SHALL THE |
| 33 | + COPYRIGHT |
| 34 | +#### HOLDER OR CONTRIBUTORS BE LIABLE FOR ANY DIRECT, INDIRECT, |
| 35 | + INCIDENTAL, |
| 36 | +#### SPECIAL, EXEMPLARY, OR CONSEQUENTIAL DAMAGES (INCLUDING, BUT NOT |
| 37 | +#### LIMITED TO, PROCUREMENT OF SUBSTITUTE GOODS OR SERVICES; LOSS OF |
| 38 | + USE, |
| 39 | +#### DATA, OR PROFITS; OR BUSINESS INTERRUPTION) HOWEVER CAUSED AND ON |
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| 41 | +#### THEORY OF LIABILITY, WHETHER IN CONTRACT, STRICT LIABILITY, OR |
| 42 | + TORT |
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| 44 | + USE |
| 45 | +#### OF THIS SOFTWARE, EVEN IF ADVISED OF THE POSSIBILITY OF SUCH |
| 46 | + DAMAGE. |
| 47 | +############################################################################################ |
| 48 | +############################################################################################ |
| 49 | + |
| 50 | +###################################################################################################### |
| 51 | +####### MSMuTect - Calling somatic MS indels |
| 52 | +###################################################################################################### |
| 53 | +####### For details on the implementation |
| 54 | +####### see YE Maruvka, Mouw K, et al, Analysis of somatic |
| 55 | +microsatellite indels identifies driver events in human tumors |
| 56 | +####### Nat. Biotechnology (2017) DOI: ***** |
| 57 | +# |
| 58 | +# Written by Yosef E. Maruvka and Gad Getz |
| 59 | +# |
| 60 | +############################################# |
| 61 | + |
| 62 | + |
| 63 | + |
| 64 | + |
| 65 | + |
| 66 | +It needs the following tools: |
| 67 | +1. Bedtools |
| 68 | +2. Samtools |
| 69 | +3. Bowtie2 |
| 70 | +4. R 2.15.3 (or similar but bot R 3.) |
| 71 | +5. Python-2.7 . |
| 72 | +6. PHOBOS. It should be obtained from |
| 73 | +http://www.ruhr-uni-bochum.de/ecoevo/cm/cm_phobos.htm and be placed |
| 74 | +under the bin/ folder. |
| 75 | + |
| 76 | +The command needed to be run from the MSMuTect directory (the needed |
| 77 | +tools are in bin/ folder and the data is in reference/ folder) |
| 78 | + |
| 79 | +MSMuTect has two step: |
| 80 | + |
| 81 | +1. Allele calling per sample |
| 82 | + |
| 83 | +sh bin/shell_for_all.sh sample_ID BAM_file_PATH BAM_file_ID |
| 84 | + |
| 85 | +e.g.: |
| 86 | +sh bin/shell_for_all.sh Normal data/ Normal.bam |
| 87 | +sh bin/shell_for_all.sh Tumor data/ Tumor.bam |
| 88 | + |
| 89 | + |
| 90 | +2. MS_indel calling (per pair) |
| 91 | + |
| 92 | +sh bin/ms_indel_calling.sh |
| 93 | + |
| 94 | +This step needs a file (space delimited, called Pairs2.ls in the |
| 95 | +MSMuTect folder) that specifies the pairs for calling mutations. |
| 96 | +E.g. |
| 97 | +Tumor Normal |
| 98 | + |
| 99 | +The output MS indels will be under the Tumor folder (e.g. Tumor). |
| 100 | +The format is a tab delimited maf_like file for every motif. |
| 101 | + |
| 102 | +The "Decision" column for every candidat indel is: |
| 103 | + |
| 104 | +1 - passed the threshold |
| 105 | +0 - did not pass the threshold |
| 106 | +-1 - filtered due to the normal sample have two alleles with one |
| 107 | +having a to low fraction |
| 108 | +-2 - filtered due to the normal sample have more than two alleles |
| 109 | +-3 - filtered due to not passing the KS-test |
| 110 | + |
| 111 | +The current reference loci are on hg19 and includes the exome territory |
| 112 | +only. |
| 113 | + |
| 114 | + |
| 115 | +For comments suggstions or errors please contact |
| 116 | +maruvka@broadinstitute.org |
| 117 | + |
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