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sc2ts

Infer a succinct tree sequence from SARS-COV-2 variation data

If you are interested in helping to develop sc2ts or would like to work with the inferred ARGS, please get in touch.

Then, download the ARG in tszip format from Zenodo:

curl -O https://zenodo.org/records/17558489/files/sc2ts_viridian_v1.2.trees.tsz

Installation

** TODO document local install **

Inference workflow

Command line inference

Inference is intended to be run from the command-line primarily, and most likely orchestrated via a shell script or Snakemake file, etc.

The CLI is split into subcommands. Get help by running the CLI without arguments:

python3 -m sc2ts

TODO document the process of getting a Zarr dataset and using it

Inference

Here we'll run through a quick example of how to get inference running on a local machine using an example config file, using the Viridian data downloaded from Zenodo.

Prerequisites

First, install the "inference" version of sc2ts from pypi:

python -m pip install sc2ts[inference]

This is essential! The base install of sc2ts contains the minimal dependencies required to access the analysis utilities outlined above.

Then, download the Viridian dataset in VCF Zarr format from Zenodo:

curl -O https://zenodo.org/records/16314739/files/viridian_mafft_2024-10-14_v1.vcz.zip

CLI

Inference is performed using the CLI, which is composed of number of subcommands. See the online help for more information:

python -m sc2ts --help

Primary inference

Primary inference is performed using the infer subcommand of the CLI, and all parameters are specified using a toml file.

Then inference under the example config for little while to see how things work:

python3 -m sc2ts infer example_config.toml --stop=2020-02-02

Once this finishes (it should take a few minutes), the results of the inference will be in the example_inference directory (as specified in the config file) and look something like this:

$ tree example_inference
example_inference
├── ex1
│   ├── ex1_2020-01-01.ts
│   ├── ex1_2020-01-10.ts
│   ├── ex1_2020-01-12.ts
│   ├── ex1_2020-01-19.ts
│   ├── ex1_2020-01-24.ts
│   ├── ex1_2020-01-25.ts
│   ├── ex1_2020-01-28.ts
│   ├── ex1_2020-01-29.ts
│   ├── ex1_2020-01-30.ts
│   ├── ex1_2020-01-31.ts
│   ├── ex1_2020-02-01.ts
│   └── ex1_init.ts
├── ex1.log
└── ex1.matches.db

Here we've run inference for all dates in January 2020 for which we have data and Feb 01. The results of inference for each day is stored in the example_inference/ex1 directory as a tskit file representing the ARG inferred up to that day. There is a lot of redundancy in keeping all these daily files lying around, but it is useful to be able to go back to the state of the ARG at a particular date and they don't take up much space.

The file ex1.log contains the log file. The config file set the log-level to 2, which is full debug output. There is a lot of useful information in there, and it can be very helpful when debugging, so we recommend keeping the logs.

The ex1.matches.db is the "match DB" which stores information about the HMM match for each sample. This is mainly used to store exact matches found during inference.

The ARGs output during primary inference (this step here) have a lot of debugging metadata included (see the section on the Debug utilities below)

Primary inference can be stopped and picked up again at any point using the --start option.

Postprocessing

Once we've finished primary inference we can run postprocessing to perform a few housekeeping tasks. Continuing the example above:

$ python3 -m sc2ts postprocess -vv \
    --match-db example_inference/ex1.matches.db \
    example_inference/ex1/ex1_2020-02-01.ts     \
    example_inference/ex1_2020-02-01_pp.ts

Among other things, this incorporates the exact matches in the match DB into the final ARG.

Generating final analysis file

To generate the final analysis ready file (used as input to the analysis APIs above) we need to run minimise-metadata. This removes all but the most necessary metadata from the ARG, and recodes node metadata using the struct codec for efficiency. On our example above:

$ python -m sc2ts minimise-metadata \
    -m strain sample_id \
    -m Viridian_pangolin pango \
    example_inference/ex1_2020-02-01_pp.ts \
    example_inference/ex1_2020-02-01_pp_mm.ts

This recodes the metadata in the input tree sequence such that the existing strain field is renamed to sample_id (for compatibility with VCF Zarr) and the Viridian_pangolin field (extracted from the Viridian metadata) is renamed to pango.

We can then use the analysis APIs on this file:

import sc2ts
import tskit

ts = tskit.load("example_inference/ex1_2020-02-01_pp_mm.ts")
dfn = sc2ts.node_data(ts)
print(dfn)

giving something like:

   pango         sample_id  node_id  is_sample  is_recombinant  num_mutations       date
0         Vestigial_ignore        0      False           False              0 2019-12-25
1          Wuhan/Hu-1/2019        1      False           False              0 2019-12-26
2      A       SRR11772659        2       True           False              1 2020-01-19
3      B       SRR11397727        3       True           False              0 2020-01-24
4      B       SRR11397730        4       True           False              0 2020-01-24
..   ...               ...      ...        ...             ...            ...        ...
60     A       SRR11597177       60       True           False              0 2020-01-30
61     A       SRR11597197       61       True           False              0 2020-01-30
62     B       SRR11597144       62       True           False              0 2020-02-01
63     B       SRR11597148       63       True           False              0 2020-02-01
64     B       SRR25229386       64       True           False              0 2020-02-01

Development

To run the unit tests, use

python3 -m pytest

You may need to regenerate some cached test fixtures occasionaly (particularly if getting cryptic errors when running the test suite). To do this, run

rm -fR tests/data/cache/

and rerun tests as above.

Debug utilities

The tree sequences files output during primary inference have a lot of debugging metadata, and there are some developer tools for inspecting this in the sc2ts.debug package. In particular, the ArgInfo class has a lot of useful utilities designed to be used in a Jupyter notebook. Use it like

import sc2ts.debug as sd
import tskit

ts = tskit.load("path_to_daily_inference.ts")
ai = sd.ArgInfo(ts)
ai # view summary in notebook

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ARG inference and analysis utilities for pandemic-scale SARS-CoV-2 data

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