4. Copy Number Variation

[1]:
from pylluminator.samples import Samples
from pylluminator.cnv import copy_number_variation, copy_number_segmentation
from pylluminator.utils import set_logger
from pylluminator.visualizations import cns_manhattan_plot

set_logger('WARNING')  # set the verbosity level, can be DEBUG, INFO, WARNING, ERROR

4.1. Load pylluminator Samples

We assume that you have already processed the .idat files according to your preferences and saved them. If not, please refer to notebook 1 - Read data and get beta values before going any further.

[2]:
my_samples = Samples.load('preprocessed_samples')
my_samples
[2]:
Samples object with 6 samples: PREC_500_3, PREC_500_2, LNCAP_500_3, PREC_500_1, LNCAP_500_2, LNCAP_500_1
EPICv2 array - genome version hg38
937,688 probes
[3]:
sample_sheet = my_samples.sample_sheet
sample_sheet
[3]:
sample_id sample_name sample_type
0 GSM7698462 LNCAP_500_3 LNCAP
1 GSM7698443 PREC_500_2 PREC
2 GSM7698435 PREC_500_1 PREC
3 GSM7698446 LNCAP_500_2 LNCAP
4 GSM7698459 PREC_500_3 PREC
5 GSM7698438 LNCAP_500_1 LNCAP

4.2. Get CNVs for a sample group

Using the PrEC samples as normalizations samples, we can calculate the Copy Number Variation per probe for LNCaP samples, and group the bins in segments depending on their copy number.

[4]:
cnv_df = copy_number_variation(my_samples, group_by='sample_type', normalization_labels='PREC')

ranges, signal_bins_df, segments_df = copy_number_segmentation(my_samples, cnv_df, 'LNCAP')

4.3. Visualize CNVs and segments

Plot the identified segments and CNV values

[5]:
cns_manhattan_plot(signal_bins_df, segments_df)
../_images/tutorials_4_-_Copy_Number_Variation_9_0.png