Mercurial > repos > artbio > wisecondorx
annotate macro.xml @ 0:bf0ebc9921f2 draft default tip
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
author | artbio |
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date | Sun, 15 Dec 2024 16:37:13 +0000 |
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bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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1 <macros> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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2 <token name="@VERSION@">1.2.9</token> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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3 <token name="@WRAPPER_VERSION@">@VERSION@+galaxy0</token> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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4 <token name="@PROFILE@">23.0</token> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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5 <token name="@pipefail@"><![CDATA[set -o | grep -q pipefail && set -o pipefail;]]></token> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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6 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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7 <xml name="requirements"> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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8 <requirements> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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9 <requirement type="package" version="@VERSION@">wisecondorx</requirement> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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10 </requirements> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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11 </xml> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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12 <token name="@help@"><![CDATA[ |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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13 **What it does** |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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14 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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15 WisecondorX, which uses a within-sample normalization technique, detects Copy |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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16 Number Variation from BAM input files. |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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17 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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18 It is important that **no** read quality filtering is executed prior to running |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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19 WisecondorX: this software requires low-quality reads to distinguish informative |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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20 bins from non-informative ones. |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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21 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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22 There are three main stages (converting, reference build and predicting) when |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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23 using WisecondorX: |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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24 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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25 **1. Convert .bam files** of aligned reads to .npz files (for both normal and |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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26 tumor samples) using the Galaxy tool **WisecondorX convert bam to npz** |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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27 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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28 **2. Buid a reference index** from .npz files from **normal** samples using the |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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29 Galaxy tool **WisecondorX build reference**. |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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30 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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31 .. class:: warningmark |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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32 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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33 Automated gender prediction, required to consistently analyze sex chromosomes, |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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34 is based on a Gaussian mixture model. If few samples (<20) are included during |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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35 reference creation, or not both male and female samples (for NIPT, this means |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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36 male and female feti) are represented, this process might not be accurate. |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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37 Therefore, alternatively, one can manually tweak the --yfrac parameter. |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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38 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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39 .. class:: warningmark |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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40 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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41 It is of paramount importance that the reference set consists of exclusively |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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42 negative (normal) control samples that originate from the same sequencer, mapper, |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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43 reference genome, type of material, ... etc, as the test samples. As a rule of |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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44 thumb, think of all laboratory and in silico steps: the more sources of bias that |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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45 can be omitted, the better. |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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46 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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47 Try to include at least 50 samples per reference. The more the better, yet, from |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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48 500 on it is unlikely to observe additional improvement concerning normalization. |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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49 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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50 **3. Predict Copy Number Variantions** from the reference index and tumor .npz cases |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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51 of interest using the Galaxy tool **WisecondorX predict CNVs** |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
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52 |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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53 ]]></token> |
bf0ebc9921f2
planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/wisecondorx commit b391b0f3348bd86a5c276dc4d3ff9dc98890c115
artbio
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54 </macros> |