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README.md

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@@ -54,19 +54,18 @@ git clone https://github.com/KolmogorovLab/Wakhan.git
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cd Wakhan/
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conda env create -f environment.yml -n Wakhan
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conda activate Wakhan
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cd src/
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```
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## Usage
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### Tumor-Normal Mode (requires normal phased VCF)
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```
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python main.py --threads <4> --reference <ref.fa> --target-bam <data.tumor.bam> --normal-phased-vcf <data.normal_phased.vcf.gz> --genome-name <cellline/dataset name> --out-dir-plots <genome_abc_output> --breakpoints <severus-sv-VCF>
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python wakhan.py --threads <4> --reference <ref.fa> --target-bam <data.tumor.bam> --normal-phased-vcf <data.normal_phased.vcf.gz> --genome-name <cellline/dataset name> --out-dir-plots <genome_abc_output> --breakpoints <severus-sv-VCF>
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```
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### Tumor-only (requires tumor phased/haplotagged BAM and phased VCF)
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```
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python main.py --threads <4> --reference <ref.fa> --target-bam <data.tumor_haplotagged.bam> --tumor-vcf <data.tumor_phased.vcf.gz> --genome-name <cellline/dataset name> --out-dir-plots <genome_abc_output> --breakpoints <severus-sv-VCF>
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python wakhan.py --threads <4> --reference <ref.fa> --target-bam <data.tumor_haplotagged.bam> --tumor-vcf <data.tumor_phased.vcf.gz> --genome-name <cellline/dataset name> --out-dir-plots <genome_abc_output> --breakpoints <severus-sv-VCF>
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```
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##### Breakpoints/Structural variations or change point detection algo for copy number model

requirements.txt

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setuptools
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pysam
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pyfaidx
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numpy
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pandas
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plotly
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scikit-learn
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scipy
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ruptures
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vcf_parser
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kaleido

setup.py

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import os
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import sys
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import subprocess
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import shutil
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try:
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import setuptools
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except ImportError:
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sys.exit("setuptools package not found. "
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"Please use 'pip install setuptools' first")
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from setuptools import setup
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# Make sure we're running from the setup.py directory.
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script_dir = os.path.dirname(os.path.realpath(__file__))
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if script_dir != os.getcwd():
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os.chdir(script_dir)
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from src.__version__ import __version__
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setup(name='wakhan',
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version=__version__,
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description='A tool for haplotype-specific somatic copy number aberrations/profiling from long reads sequencing data',
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url='https://github.com/KolmogorovLab/Wakhan',
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author='Tanveer Ahmad',
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author_email = 'tanveer.ahmad@nih.gov',
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license='MIT',
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packages=['src'],
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package_data={'src': ['annotations/*']},
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entry_points={'console_scripts': ['wakhan = src.main:main']},
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)

src/__init__.py

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src/__version__.py

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__version__ = "0.1"

src/breakpoints_arcs.py

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logger = logging.getLogger()
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from utils import get_contigs_list, df_chromosomes_sorter
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from src.utils import get_contigs_list, df_chromosomes_sorter
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def get_all_breakpoints_data(edges, edges_chr, height, path, args):
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from vcf_parser import VCFParser

src/hapcorrect/src/__init__.py

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src/hapcorrect/src/loh.py

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import logging
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logger = logging.getLogger()
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from hapcorrect.src.process_vcf import get_snps_frquncies, het_homo_snps_gts, vcf_parse_to_csv_for_het_phased_snps_phasesets, cpd_mean, get_snps_frquncies_coverage, vcf_parse_to_csv_for_snps, get_snps_counts
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from hapcorrect.src.utils import csv_df_chromosomes_sorter, loh_regions_phasesets, detect_alter_loh_regions
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from hapcorrect.src.extras import get_contigs_list
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from hapcorrect.src.plots import add_scatter_trace_coverage, print_chromosome_html, plots_add_markers_lines, plots_layout_settings
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from src.hapcorrect.src.process_vcf import get_snps_frquncies, het_homo_snps_gts, vcf_parse_to_csv_for_het_phased_snps_phasesets, cpd_mean, get_snps_frquncies_coverage, vcf_parse_to_csv_for_snps, get_snps_counts
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from src.hapcorrect.src.utils import csv_df_chromosomes_sorter, loh_regions_phasesets, detect_alter_loh_regions
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from src.hapcorrect.src.extras import get_contigs_list
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from src.hapcorrect.src.plots import add_scatter_trace_coverage, print_chromosome_html, plots_add_markers_lines, plots_layout_settings
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def detect_loh_centromere_regions(chrom, args, centromere_region_starts, centromere_region_ends, loh_region_starts, loh_region_ends, ref_start_values, ref_end_values, haplotype_1_values, haplotype_2_values, unphased_reads_values, haplotype_1_values_phasesets, haplotype_2_values_phasesets, ref_start_values_phasesets, ref_end_values_phasesets):
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hp = []

src/hapcorrect/src/main_hapcorrect.py

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logger = logging.getLogger()
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from hapcorrect.src.process_bam import get_all_reads_parallel, update_coverage_hist, get_segments_coverage, haplotype_update_all_bins_parallel, get_snps_frequencies, tumor_bam_haplotag
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from hapcorrect.src.process_vcf import vcf_parse_to_csv_for_het_phased_snps_phasesets, get_snp_frequencies_segments, snps_frequencies_chrom_mean, get_snps_frquncies_coverage, vcf_parse_to_csv_for_snps, index_vcf, rephase_vcf, get_phasingblocks, snps_frequencies_chrom_mean_phasesets, get_vafs_from_normal_phased_vcf
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from hapcorrect.src.phase_correction import generate_phasesets_bins, phaseblock_flipping, phase_correction_centers, contiguous_phaseblocks, detect_centromeres, flip_phaseblocks_contigous, remove_overlaping_contiguous, switch_inter_phaseblocks_bins, flip_phaseblocks_unresolved, flip_phaseblocks_unresolved_ends
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from hapcorrect.src.utils import get_chromosomes_bins, write_segments_coverage, csv_df_chromosomes_sorter, get_snps_frquncies_coverage_from_bam, \
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from src.hapcorrect.src.process_bam import get_all_reads_parallel, update_coverage_hist, get_segments_coverage, haplotype_update_all_bins_parallel, get_snps_frequencies, tumor_bam_haplotag
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from src.hapcorrect.src.process_vcf import vcf_parse_to_csv_for_het_phased_snps_phasesets, get_snp_frequencies_segments, snps_frequencies_chrom_mean, get_snps_frquncies_coverage, vcf_parse_to_csv_for_snps, index_vcf, rephase_vcf, get_phasingblocks, snps_frequencies_chrom_mean_phasesets, get_vafs_from_normal_phased_vcf
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from src.hapcorrect.src.phase_correction import generate_phasesets_bins, phaseblock_flipping, phase_correction_centers, contiguous_phaseblocks, detect_centromeres, flip_phaseblocks_contigous, remove_overlaping_contiguous, switch_inter_phaseblocks_bins, flip_phaseblocks_unresolved, flip_phaseblocks_unresolved_ends
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from src.hapcorrect.src.utils import get_chromosomes_bins, write_segments_coverage, csv_df_chromosomes_sorter, get_snps_frquncies_coverage_from_bam, \
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infer_missing_phaseblocks, df_chromosomes_sorter, is_phasesets_check_simple_heuristics, write_df_csv, loh_regions_events, snps_frequencies_chrom_genes, genes_segments_coverage, genes_segments_list, extend_snps_ratios_df, get_chromosomes_regions, add_breakpoints
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from hapcorrect.src.extras import get_contigs_list
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from hapcorrect.src.plots import plot_coverage_data, change_point_detection, plot_coverage_data_after_correction, loh_plots_genome
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from hapcorrect.src.cpd import cpd_positions_means
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from hapcorrect.src.loh import detect_loh_centromere_regions, plot_snps
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from src.hapcorrect.src.extras import get_contigs_list
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from src.hapcorrect.src.plots import plot_coverage_data, change_point_detection, plot_coverage_data_after_correction, loh_plots_genome
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from src.hapcorrect.src.cpd import cpd_positions_means
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from src.hapcorrect.src.loh import detect_loh_centromere_regions, plot_snps
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MIN_SV_SIZE = 50
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def main_process(args, breakpoints_additional):

src/hapcorrect/src/phase_correction.py

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import statistics
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import numpy as np
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import pandas as pd
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from hapcorrect.src.utils import csv_df_chromosomes_sorter, write_segments_coverage_snps, merge_regions, get_contigs_list
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from hapcorrect.src.process_vcf import squash_regions
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from src.hapcorrect.src.utils import csv_df_chromosomes_sorter, write_segments_coverage_snps, merge_regions, get_contigs_list
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from src.hapcorrect.src.process_vcf import squash_regions
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import logging
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logger = logging.getLogger()

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