Executing the Program ===================== The main workflow is executed through :func:`pyEpiAneufinder.epiAneufinder`. When using a fragment file as input, the file should be ordered first by cell barcode and then by genomic position. ``pyEpiAneufinder`` can do this sorting internally when ``sort_fragment=True``. Alternatively, the ``fragment_file`` argument can point to a Cell Ranger-style matrix directory containing the peaks, barcodes, and matrix files. In that case, set ``cellRangerInput=True``. Fragment-file input is still the preferred path when available. By default, the workflow performs GC correction. The correction can be disabled with ``GC=False``, but the default is recommended. The workflow also needs: - a reference genome FASTA file - a blacklist BED file - a window size - an output directory - optional chromosomes to exclude - a minimum fragment cutoff for filtering cells For example: .. code-block:: python import pyEpiAneufinder as pea pea.epiAneufinder( fragment_file="sample_data/sample.tsv.gz", outdir="results_sample_data", genome_file="hg38.fa.gz", blacklist="sample_data/hg38-blacklist.v2.bed", windowSize=100000, ncores=1, exclude=["chrX", "chrY"], minFrags=20000, resume=False, cellRangerInput=False, GC=True, sort_fragment=True, remove_barcodes=None, ) The test dataset used in the examples is available in the repository under ``sample_data/``. The main output is written to ``results_sample_data/outs/result_table.tsv.gz``. This table contains the consensus CNV state per cell and genomic bin, encoded as ``0=loss``, ``0.5=weak loss``, ``1=base``, ``1.5=weak gain``, and ``2=gain``. Additional intermediate outputs are described on the :doc:`../input-output` page. The example run produces the following karyogram: .. image:: ../../sample_data/Karyogram.png :alt: Karyogram generated from the example dataset :width: 900