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cellme

PyPI version CI Python Versions License: MIT MyPy Checked uv Ruff

Convert a human cell line identifier into a truth-track VCF of its known mutations.

Introduction

cellme builds a truth/known VCF for a cell line by resolving a name such as MOLT-4 to a Cancer Cell Line Encyclopedia sample, fetching that sample's somatic mutations from the cBioPortal REST API, and writing them as a sorted VCF. The mutation source is the ccle_broad_2019 study. Records are against the GRCh37 assembly but a liftover can be performed if you need GRCh38 output.

Installation

Install the release from PyPI with pip:

pip install cellme

Add cellme to a uv project, or run it without installing, with:

uv add cellme
uvx cellme --help

Development Installation

Install the Python package and dependency management tool uv using the official documentation.

Install the dependencies of the project with:

uv sync --locked

To check successful installation, run:

uv run cellme --help

Usage

Write a GRCh38 truth track for the cell line MOLT-4 to a file:

uv run cellme "MOLT-4" --build GRCh38 --reference /ref/hg38.fa --output MOLT-4.GRCh38.vcf

[!IMPORTANT] Always pass --reference with a FASTA for the build you target, as shown above. It ensure the correct anchor bases are set for insertions and deletions. Without it, indel anchor bases fall back to a placeholder N and those records are marked ANCHOR=placeholder.

The query is matched case-insensitively on the leading cell line token, so MOLT-4, MOLT4, and the full MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE sample ID all resolve to the same sample.

VCF INFO Fields

Every record is annotated with compact, self-describing INFO fields.

Key Type Description
GENE String HUGO gene symbol.
PROTEIN_CHANGE String Protein-level change in CCLE short form (HGVS p.-like), e.g. R306*.
VARIANT_CLASS String Variant classification (MAF-style), e.g. Missense_Mutation.
VARIANT_TYPE String Sequence alteration type reported by CCLE: SNP, DNP, INS, or DEL.
CELL_LINE String Cell line resolved from the query.
SAMPLE_ID String CCLE sample identifier for the cell line.
ENTREZ Integer NCBI Entrez gene identifier.
REFSEQ String RefSeq mRNA accession for the annotated transcript.
PROTEIN_POS String Affected protein position or range, 1-based.
SOURCE String Source database and study, e.g. cBioPortal CCLE ccle_broad_2019.
ORIGINAL_BUILD String Genome build of the source coordinates before any liftover.
ORIGINAL_LOCUS String Original locus before liftover in UCSC position format, e.g. chr17:7577022.
LIFTED Flag Coordinate was lifted from ORIGINAL_BUILD to the output reference build.
ANCHOR String Provenance of the indel anchor base: reference or placeholder.

The ID column is set to a stable gene:proteinChange token where one is available, for example TP53:R306*, and falls back to gene:chrom:pos otherwise.

Development and Testing

See the contributing guide for more information.

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