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Asynchronous genomic comparison and visualization toolkit to perform on local devices(parsers, loaders, matchers, visualizers).

Project description

Biotronics Ai

ForenSight

An open-source toolkit for forensic genomic comparison and data storage, built by Biotronics AI. It streams large files, minimizes RAM with memory mapping, surfaces rich logging, and runs locally for forensic/genomic analysis.

You can view the preprint version of the research paper that explains the pipeline and math in detail here.

What it delivers in practice?

  • Multi-DNA comparison within seconds: stream batches, eliminate weak candidates fast, then score the top match with cosine similarity.
  • STR pattern detection in a second across multiple DNA samples: sliding-window STR search scans whole genomes without loading everything into memory.
  • HID/ABI/FSA to CSV in one pass: extract peaks, traces, and metadata for downstream mixture/QC without proprietary viewers.
  • Multi-format handling: Normalize the sequence formats to be compatible and comparable to each other.

Features

Supported Genomic Data File Formats:

  • Sequence: Data types including sequence information FASTA/FASTQ/SEQ/SAM/BAM/CRAM files.
  • Annotation: VCF/BED/BigBed/BigWig/WIG/GFF/GTF files.
  • Electrophoregram: FSA/ABI/AB1/HID with async batch reading and N-stripping.

Normalization: Cross-format sequence normalization (SequenceNormalizationManager) for mixed sequence inputs with async batch reading and N-stripping.

Core engines:

  • SampleLoader (batch/memmap streaming)
  • SequenceMatcher (statistical elimination with Wilson intervals)
  • DoubleSampleComparator (cosine-like similarity, chunked)
  • STRSearcher (sliding-window similarity search)

Visualizers → CSV: HID/ABI/FSA emit multiple CSVs (main peaks, trace/basecall, excluded fields, APrX sidecars). Band visualizer for sequence/feature pairs.

Memory-aware: Streaming, per-batch processing, optional memmap buffers, explicit cleanup paths.

Install

python -m venv .venv
source .venv/bin/activate
pip install forensight

Dependencies are defined in pyproject.toml / requirements.txt.

Project layout

  • models.py — parsers factory, loader, matchers, comparators, STR search.
  • parsers.py — file-format parsers (async batch, N-stripping).
  • visualize.py — CSV visualizers (HID/ABI/FSA), band visualizer.
  • base.py — base components/logging helpers.
  • data_samples/ — sample data paths expected by test.py (adjust as needed).
  • mem_map/, logs/ — runtime outputs (ignored by git).

Quick start

Core usage examples (and real-world analogues)

1) Dual-sample comparison

Use when you have two specimens of the same format (e.g., two FASTA genomes, or two FASTQ readsets) and want a similarity score.

from forensight import SampleLoader, DoubleSampleComparator

loader = SampleLoader()
batches = await loader.load_samples(
    ["sample1.fa", "sample2.fa"],
    batch_size=16384,
    memmap_dir="mem_map",
)
s1, s2 = batches["sample1.fa"], batches["sample2.fa"]
comp = DoubleSampleComparator()
sim = await comp.compare(s1, s2, batch_size=16384)
print("cosine-like similarity:", sim)

Real life: Basic “are these two references the same?” QC, or comparing two assemblies of the same chromosome.

2) Multi-sample elimination to find the closest match

Use when you have one target and a pool of candidates (all sequence formats). The matcher samples loci, eliminates weak candidates with Wilson intervals, and returns the best; then you can stream a full comparison against the winner. Keep memmap_dir set for all loaders.

from forensight import SampleLoader, SequenceMatcher, DoubleSampleComparator

loader = SampleLoader()
matcher = SequenceMatcher(target=None, pool=[])
best = await matcher.match_streaming_paths(
    "target.fa",
    ["cand1.fa", "cand2.fa", "cand3.fa"],
    batch_size=16384,
    loader=loader,
    memmap_dir="mem_map",
)
winner = best["best_match"]
comp = DoubleSampleComparator()
sim = await comp.compare_stream("target.fa", winner, batch_size=16384)
print("best:", winner, "similarity:", sim)

Real life: Pick the closest specimen in a large archive to a query genome/contig, without loading everything into RAM. And verify the comparison with cosine similarity to ensure the precision with highest confidence.

2b) Mixed sequence formats handled seamlessly

When the target and candidates are different sequence file types (e.g., FASTA + FASTQ + SEQ), the ParserFactory + SequenceNormalizationManager normalize non-FASTA inputs to a common sequence form before comparison. Ordering is preserved batch-by-batch. Use memmaps consistently.

from forensight import SampleLoader, SequenceMatcher

files = ["target.fa", "reads.fastq", "sample.seq"]
matcher = SequenceMatcher(target=None, pool=[])
best = await matcher.match_streaming_paths(
    files[0],
    files[1:],
    batch_size=16384,
    loader=SampleLoader(),
    memmap_dir="mem_map",
)
print("best match across mixed formats:", best)

Real life: Compare a reference contig (FASTA) against sequencing reads (FASTQ) and a legacy SEQ file in one pass, without pre-conversion steps.

3) STR sliding-window search

Use when you need to find the most similar occurrence of a short STR pattern across multiple sequences.

from forensight import STRSearcher

searcher = STRSearcher()
result = await searcher.search("ATGCTAGCTA", ["genome1.fa", "genome2.fa"])
print(result)  # file, position, substring, similarity

Real life: Forensic STR probe search across multiple chromosomes/assemblies; finds best match with error resistant computation.

4) HID/ABI/FSA to CSV (and optional WEBP traces)

Use when you have capillary electrophoresis outputs and need structured CSVs of signals/metadata. You can toggle plotting of DATA9–12 traces with visualize=True/False.

from forensight import HIDVisualizer, ABIChromatogramVisualizer, FSAElectropherogramVisualizer

# HID: CSVs + WEBP
await HIDVisualizer().visualize("sample.hid", output_path="hid_output.csv", visualize=True)
# HID: CSVs only (skip WEBP)
# await HIDVisualizer().visualize("sample.hid", output_path="hid_output.csv", visualize=False)

# ABI: CSVs + WEBP (or set visualize=False to skip)
await ABIChromatogramVisualizer().visualize("sample.abi", output_path="abi_output.csv", visualize=True)

# FSA: CSVs + WEBP (or set visualize=False to skip)
await FSAElectropherogramVisualizer().visualize("sample.fsa", output_path="fsa_output.csv", visualize=True)

# Sidecars: .trace.csv, .excluded.csv, .aprx.csv/.xml (if present)
# WEBP legend: A=DATA9 (blue), C=DATA10 (green), G=DATA11 (yellow), T=DATA12 (magenta)

Real life: Extract instrument settings, traces/basecalls, and metadata from CE runs for downstream mixture/trace analysis or QC.

5) Trace visualization from HID/ABI/FSA traces

Use when you want a quick look at DATA9–12 traces without rerunning the extractor. Pass visualize=False to the main visualizers to skip auto-WEBP, then render later:

import csv
from forensight import DataBandVisualizer

with open("hid_output.trace.csv", newline="") as fh:
    trace_rows = list(csv.reader(fh))

DataBandVisualizer().render_from_trace_rows(trace_rows, "hid_output.trace.webp")
# Legend: A=DATA9 (blue), C=DATA10 (green), G=DATA11 (yellow), T=DATA12 (magenta)

Real life: Inspect electropherogram channel intensities quickly without heavy GUIs.

6) Kernel matrix (memmap) with and without saved vectors/ids

Please note that this is the fastest and memory-heaviest solution you can use. Usage with additional validation with cosine similarity (DoubleSampleComparator) is highly recommended. Use when you want a reusable kernel over large amount of samples. Always set memmap_dir and logs_dir.

from forensight import KernelMatrix, DNASample
import numpy as np

# Synthetic samples
samples = [
    DNASample(f"sample_{i}", np.random.rand(1024).astype(np.float32), "synthetic")
    for i in range(100)
]

# Case A: no vector save, conditional off
km_a = KernelMatrix(
    samples,
    memmap_dir="mem_map",
    logs_dir="logs",
    conditional=False,
    save_vectors_path=None,   # nothing persisted
)
best_a = km_a.best_match("sample_0")
km_a.cleanup()

# Case B: save vectors and ids, conditional on
km_b = KernelMatrix(
    samples,
    memmap_dir="mem_map",
    logs_dir="logs",
    conditional=True,                     # optional, additional security layer before encryption
    save_vectors_path="logs/kernel.npy",  # persists stacked vectors
)
# ids are written to logs/kernel_vectors_ids.txt
best_b = km_b.best_match("sample_0")
km_b.cleanup()

⚠️ Hardware & data quality: Kernel builds are memory-heavy (O(n²) for n samples). Ensure memmap_dir has disk space and your machine has enough RAM for the chosen sample count/length. Poor-quality or inconsistent sequences will degrade similarity results—verify inputs before kernelizing.

7) Creating DNASample objects directly

SampleLoader usually creates DNASample objects for you (batch-by-batch, with N-stripping and optional memmaps). If you need to construct them manually (e.g., synthetic tests), use:

import numpy as np
from forensight import DNASample

vec = np.array([0, 1, 2, 3], dtype=np.int8)  # your vectorized sequence
sample = DNASample(
    sample_id="sample_0",
    sequence=vec,
    file_format="fq",   # e.g., 'fa', 'fq', etc.
    metadata={"note": "example"},  # optional: headers/fields from parser
    memmap_path=None           # optional: path if sequence is a memmap
)

Note: In normal use, SampleLoader handles parsing, normalization, vectorization, N-removal, metadata attachment, and optional memmap creation automatically. The above is for users who need to craft DNASample objects by hand for custom pipelines or tests.

Notes on visualizers

  • HID/ABI/FSA readers expect ABIF traces (PLOC*/DATA*). If traces are missing, peak CSVs may be empty but metadata sidecars still export.
  • ABI/FSA/HID visualizers partition outputs:
    • main metadata: curated fields (run/sample/dye/trace pointers).
    • trace/basecall: PLOC1/2, DATA1–12, PBAS1/2.
    • excluded: everything else.
    • APrX1: parsed parameters + raw XML when present.
    • optional WEBP: DATA9-12 line plot (A=DATA9, C=DATA10, G=DATA11, T=DATA12). Toggle with visualize=True/False.

Memory & performance tips

  • Prefer streaming APIs: SampleLoader.stream_samples, compare_stream, match_streaming_paths.
  • Use memmap_dir to offload large batches.
  • Keep batch_size aligned across components; adjust for RAM via utils.calculate_effort (helper).
  • Clean up memmaps after use (see cleanup_memmaps in test.py).

Testing

  • Minimal scenarios live in test.py. Provide small sample files under data_samples/.
  • Suggested additions: pytest + pytest-asyncio for unit coverage of parsers, matchers, visualizers.

CI (suggested)

  • Add a GitHub Actions workflow to run python -m compileall, ruff (optional), and pytest.

Contributing

We value all kinds of contributions to the projects but the

  • Standard PR/issue workflow.
  • Keep new parsers async-friendly and streaming-capable.
  • Preserve logging via BaseComponent._log_state.
  • Development of ForenSight for other programming languages.
  • Improve the system to overcome known limitations.
  • Increase the number of supported file formats.
  • Implement progress bar to the models properly.

Known limitations

  • HID/ABI/FSA peak CSVs rely on available traces; when absent, only metadata is emitted.
  • Band visualizer image output is tiled to respect WEBP size limits; text labels are minimal by design.

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