SBSGenerator is a comprehensive Python package designed for bioinformaticians and researchers working in the field of genomics. This package offers a robust set of tools for generating, analyzing, and interpreting single base substitutions (SBS) mutations from Variant Call Format (VCF) files. With a focus on ease of use, efficiency, and scalability, SBSGenerator facilitates the detailed study of genomic mutations, aiding in the understanding of their roles in various biological processes and diseases. Uniquely developed using a hybrid of Python and Rust, SBSGenerator leverages the PyO3 library for seamless integration between Python's flexible programming capabilities and Rust's unparalleled performance. This innovative approach ensures that SBSGenerator is not only user-friendly but also incredibly efficient and capable of handling large-scale genomic data with ease.
$ pip install sbsgenerator
The SBSGenerator
package is designed to facilitate the generation and analysis of SBS mutation data from VCF files across different genomic contexts. Depending on the specified context size, it can create comprehensive dataframes listing all possible SBS mutations, ranging from simple 3-nucleotide contexts to more complex 7-nucleotide contexts, with the potential number of mutation combinations exponentially increasing with context size.
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Context 3: The dataframe contains all of the following the pyrimidine single nucleotide variants, N[{C > A, G, or T} or {T > A, G, or C}]N. 4 possible starting nucleotides x 6 pyrimidine variants x 4 ending nucleotides = 96 total combinations.
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Context 5: The dataframe contains all of the following the pyrimidine single nucleotide variants, NN[{C > A, G, or T} or {T > A, G, or C}]NN. 16 (4x4) possible starting nucleotides x 6 pyrimidine variants x 16 (4x4) possible ending nucleotides = 1536 total combinations.
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Context 7: The dataframe contains all of the following the pyrimidine single nucleotide variants, NNN[{C > A, G, or T} or {T > A, G, or C}]NNN. 64 (4x4x4) nucleotides x 6 pyrimidine variants x 64 (4x4x4) possible ending dinucleotides = 24576 total combinations.
This tool currently only supports vcf formats. The user must provide variant data adhering to the format. The input VCF (Variant Call Format) file should adhere to the following format:
Name | Fullname | Datatypes |
---|---|---|
Type | Represents the type of mutation. | str |
Gene | Indicates the specific gene associated with the mutation. | str |
PMID | Refers to the PubMed ID of the associated research paper. | str |
Genome | Specifies the genome version used for mapping. | str |
Mutation Type | Describes the type of mutation. | str |
Chromosome | Represents the chromosome number where the mutation occurs. | str |
Start Position | Indicates the starting position of the mutation on the chromosome. | str |
End Position | Represents the ending position of the mutation on the chromosome. | str |
Reference Allele | Denotes the original allele at the mutation site. | str |
Mutant Allele | Represents the altered allele resulting from the mutation. | str |
Method | Describes the method used for mutation detection. | str |
from sbsgenerator import generator
# Context number (must be larger than 3 and uneven)
context_size = 7
# List with all the vcf files
vcf_files = ["data/test.vcf"]
# Where the ref genomes will be downloaded to
ref_genome = "temp/ref_genomes"
sbsgen = generator.SBSGenerator(
context=context_size,
vcf_files=vcf_files,
ref_genome=ref_genome
)
sbsgen.count_mutations()
# The attribute count_samples holds the sbs matrix
sbsgen.count_samples
I welcome contributions to SBSGenerator! If you have suggestions for improvements or bug fixes, please open an issue or submit a pull request.
SBSGenerator is released under the MIT License. See the LICENSE file for more details.