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Fast, vectorized genomic sequences with first-class mutation tracking.

Project description

SeqMat

PyPI Python License: MIT Downloads

Fast, vectorized genomic sequences with first-class mutation tracking.

SeqMat treats a DNA sequence as a NumPy-backed matrix of (nucleotide, genomic position) — so slicing, mutation, complement, and splicing are all vectorized array operations. It ships with a compact gene/transcript model that loads from a single indexed SQLite file built from Ensembl annotations, plus a position → gene lookup that resolves overlapping genes in microseconds.

from seqmat import Gene, SeqMat

# What gene is at chr12:25,245,350?
Gene.from_position("12", 25_245_350)            # [Gene(KRAS)]

# Load it, assemble the mature mRNA, translate.
kras = Gene.from_file("KRAS")
tx   = kras.transcript()
tx.generate_mature_mrna()                       # 0.2 ms
tx.generate_protein()

# Mutate a sequence with full history and conflict detection.
seq = SeqMat("ATCGATCGATCG")
seq.apply_mutations([(3, "C", "G"), (6, "-", "AAA"), (10, "TC", "-")])
seq.mutations                                   # [(SNP, 3, C, G), (INS, 6, -, AAA), (DEL, 10, TC, -)]

Install

pip install seqmat
seqmat setup                                    # one-time: downloads hg38 genes.db + FASTA (~4 GB)

seqmat setup writes a small env block (SEQMAT_DATA_DIR, SEQMAT_DEFAULT_ORGANISM) to your shell rc so the data is found automatically next session. Mouse: seqmat setup --organism mm39. No config file needed.

If you only want SeqMat for in-memory sequence work, you can skip seqmat setup entirely — Gene / Transcript are the only things that need the gene database.

Quick start

Sequence operations

from seqmat import SeqMat
import numpy as np

seq = SeqMat("ATCGATCGATCG", indices=np.arange(1000, 1012))
seq[1005]                                       # base at genomic position 1005
seq[1003:1008].seq                              # "GATCG"
seq.reverse_complement()                        # in place
seq.remove_regions([(1003, 1005), (1008, 1009)])  # splice out introns

Genes and transcripts

from seqmat import Gene

kras = Gene.from_file("KRAS")
kras                                            # Gene: KRAS, ID: ENSG00000133703, Chr: 12, Transcripts: 14

tx = kras.transcript()                          # primary transcript
tx.generate_mature_mrna()
tx.generate_protein()
tx.protein[:20]                                 # 'MTEYKLVVVGAGGVGKSALT'

acceptors, donors = kras.splice_sites()         # Counter across all transcripts

Position → gene (new in 1.4.0)

from seqmat import Gene, gene_names_at_position

Gene.from_position("12", 25_245_350)            # [Gene(KRAS)] — point query
Gene.from_position("chr12", (25_200_000, 25_300_000))  # all overlapping genes in a range
gene_names_at_position("X", 100_000)            # names only (no BLOB load) — ~17 us

Backed by a per-chromosome sorted NumPy index persisted as a sidecar gene_locations.npz next to genes.db. Built lazily on first call; fresh seqmat setup builds also emit it for free.

Loading from FASTA

seq = SeqMat.from_fasta_file("chr12.fasta", "chr12", start=25398284, end=25398384)
seq.apply_mutations([(25398290, "G", "A")])     # G12D, the most famous KRAS variant

Performance

Numbers from an M-series Mac on hg38 (one core, warm caches):

Operation Time
gene_names_at_position(chrm, pos) 17 µs
Gene.from_file("KRAS") (SQLite + unpickle) 24 ms
Gene.from_position(chrm, pos) end-to-end 24 ms
KRAS mature mRNA assembly 0.2 ms
1,000-SNP batch on 4 kb sequence 19 ms

The hot paths use NumPy structured arrays, LUT-based complement, np.searchsorted on sorted starts, FASTA range-scoped reads, and copy-on-write clone(). See seqmat/seqmat.py and seqmat/locator.py.

Command-line interface

seqmat setup [--organism hg38|mm39] [--path PATH] [--build-from-sources]
seqmat summary                                  # what's installed
seqmat info --organism hg38
seqmat search --organism hg38 --query KRAS
seqmat list   --organism hg38 --biotype protein_coding --limit 20
seqmat count  --organism hg38

Data setup

By default seqmat setup downloads prebuilt genes.db and FASTA from the SeqMat S3 bucket — no build step. To regenerate genes.db from a specific Ensembl release or custom GTF:

seqmat setup --organism hg38 --build-from-sources

For custom organisms, mirroring the prebuilt bucket, ephemeral environments (Docker / Run.ai), shared multi-user installs, and the full configuration system — see docs/SETUP.md.

API at a glance

from seqmat import (
    SeqMat,                           # vectorized sequence with mutation tracking
    Gene, Transcript,                 # gene/transcript model
    gene_names_at_position,           # fast name-only positional lookup
    build_location_index,             # force-rebuild the position index
    setup_genomics_data,              # programmatic setup
    search_genes, available_genes,    # discovery helpers
)

Key classes:

  • SeqMatapply_mutations, clone, complement, reverse_complement, remove_regions, from_fasta_file
  • Genefrom_file, from_position, transcript, splice_sites, primary_transcript
  • Transcriptgenerate_pre_mrna, generate_mature_mrna, generate_protein, exons, introns

Requirements

Python ≥ 3.10. Core deps: numpy, pandas, pyarrow, pysam, requests, tqdm, platformdirs. Optional: lmdb (faster gene loading on large workloads — install with pip install seqmat[lmdb]).

Contributing

PRs welcome. Run the test suite with pytest tests/. Benchmarks live under tests/bench_*.py.

License

MIT — see LICENSE.

Citation

If SeqMat is useful in your research, please cite:

Lynn Vila, N. (2025). SeqMat: a fast, vectorized genomic sequence library
with mutation tracking. https://github.com/nicolasalynn/seqmat

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