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