from IPython.display import display

Data export

Variant Call Format

Tskit supports exporting data to the standard Variant Call Format via the tskit vcf command line interface command and the TreeSequence.write_vcf() method in the Python API. Conversion is quite efficient, with tskit producing VCF data at several hundred megabytes per second (for large files), which is usually as fast as it can be written to storage or consumed by programs in a pipeline.

Tip

If we have a tree sequence file the command line interface is often the most convenient way to convert to VCF:

$ tskit vcf example.trees > example.vcf

See the Compressed output section for information on how to compress the VCF output.

For tree sequences produced by recent versions of programs such as msprime, SLiM, fwdpy11 or tsinfer, VCF output will “do the right thing” and no further arguments are needed. For example, here we simulate 3 diploid individuals with mutations using msprime, and convert to VCF.

import sys
import msprime
ts = msprime.sim_ancestry(
    samples=3, ploidy=2, sequence_length=10, random_seed=2)
ts = msprime.sim_mutations(ts, rate=0.1, random_seed=2)
ts.write_vcf(sys.stdout)
##fileformat=VCFv4.2
##source=tskit 0.5.2
##FILTER=<ID=PASS,Description="All filters passed">
##contig=<ID=1,length=10>
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	tsk_0	tsk_1	tsk_2
1	2	0	A	T,G	.	PASS	.	GT	0|0	0|0	2|2
1	3	1	C	T	.	PASS	.	GT	0|0	0|1	0|0
1	4	2	G	C	.	PASS	.	GT	1|0	1|1	0|0
1	6	3	C	T	.	PASS	.	GT	1|0	1|1	0|0
1	9	4	A	C	.	PASS	.	GT	0|0	1|0	0|0

In the output VCF we have 3 diploid samples (see the Terminology section) corresponding to samples specified in the ancestry simulation with IDs tsk_0, tsk_1 and tsk_2 (see the Individual names section for how to override these default labels). We then have a line for every row in the site table, and the data is derived directly from the TreeSequence.variants() method; e.g.

for var in ts.variants():
    print(var.site.position, var.site.id, var.alleles, var.genotypes, sep="\t")
2.0	0	('A', 'T', 'G')	[0 0 0 0 2 2]
3.0	1	('C', 'T')	[0 0 0 1 0 0]
4.0	2	('G', 'C')	[1 0 1 1 0 0]
6.0	3	('C', 'T')	[1 0 1 1 0 0]
9.0	4	('A', 'C')	[0 0 1 0 0 0]

We can see the POS value is equal to the site’s position (see the Modifying coordinates for information on how we deal with continuous coordinates), the ID value is the site’s ID, and the REF and ALT values are derived from the variant’s alleles.

The GT values for the three diploid individuals are derived from the variant’s genotypes (see the Terminology section). For this simulation, the diploid individuals correspond to adjacent sample nodes in order, and we can see there is a direct correspondence between the phased GT values and variant’s genotypes. See the Constructing GT values section for more information on how this done in general and for options to control the VCF sample and GT values.

Important

In these examples we write the VCF data to sys.stdout so that we can see the output. Usually, however, you’d write to a file:

with open("output.vcf", "w") as vcf_file:
    ts.write_vcf(vcf_file)

See also

See the Compressed output section for information on how to compress the output or convert to BCF.

Terminology

There are some mismatches between the terminology for tskit and VCF. In VCF a “sample” is a multiploid individual, but in tskit a sample refers to a single node (monoploid genome), and an individual consists of one or more nodes (e.g., two nodes for a diploid). Similarly, in VCF a “genotype” refers to the observed allelic state for a sample individual at a particular site, whereas in tskit a genotype is the observed allelic state for a node (see Variant.genotypes).

See also

See the Glossary for more details on tskit’s data model and terminology.

Compressed output

The simplest way to compress the VCF output is to use the tskit vcf command line interface and pipe the output to bgzip:

$ tskit vcf example.trees | bgzip -c > example.vcf.gz

A general way to convert VCF data to various formats is to pipe the text produced by tskit into bcftools using the command line interface:

$ tskit vcf example.trees | bcftools view -O b > example.bcf

If you need more control over the form of the output (or want to work directly in Python), the following recipe has the same effect:

import os
import subprocess

read_fd, write_fd = os.pipe()
write_pipe = os.fdopen(write_fd, "w")
with open("output.bcf", "w") as bcf_file:
    proc = subprocess.Popen(
        ["bcftools", "view", "-O", "b"], stdin=read_fd, stdout=bcf_file
    )
    ts.write_vcf(write_pipe)
    write_pipe.close()
    os.close(read_fd)
    proc.wait()
    if proc.returncode != 0:
        raise RuntimeError("bcftools failed with status:", proc.returncode)

The VCF output can also be compressed using the gzip Python module:

import gzip

with gzip.open("output.vcf.gz", "wt") as f:
    ts.write_vcf(f)

However, this gzipped VCF won’t be fully compatible with downstream tools such as tabix, which usually require the VCF to use the specialised bgzip format.

Masking output

The TreeSequence.write_vcf() method provides the site_mask and sample_mask arguments to omit or mark parts of the output as missing.

ts = msprime.sim_ancestry(
    samples=3, ploidy=2, sequence_length=10, random_seed=2)
ts = msprime.sim_mutations(ts, rate=0.1, random_seed=2)
ts.tables.sites
idpositionancestral_statemetadata
02A
13C
24G
36C
49A

The sample_mask argument provides a general way to mask out parts of the output, which can be helpful when simulating missing data. In this (contrived) example, we create a sample mask function that marks one genotype missing in each variant in a regular pattern:

def sample_mask(variant):
    sample_mask = np.zeros(ts.num_samples, dtype=bool)
    sample_mask[variant.site.id % ts.num_samples] = 1
    return sample_mask


ts.write_vcf(sys.stdout, sample_mask=sample_mask)

Constructing GT values

The core elements of the tskit data model are nodes, edges, sites and mutations. These four tables allow us to completely describe the genetic ancestry of a set of sampled monoploid genomes and their genetic variation. The individual table defines a set of individual organisms, and it can be used to define the inheritance relationships between then (the pedigree). An individual may be associated with one or more nodes, and these nodes may or may not be samples (see the Glossary for clarification of these terms). Thus, there is some complexity in how the per-individual GT values are generated, which we explain in this section.

Without individuals

We start with an example in which there are no individuals defined (which was the default in msprime before version 1.0):

import tskit
tables = tskit.Tree.generate_balanced(4, span=10).tree_sequence.dump_tables()
tables.sites.add_row(3, ancestral_state="A")
tables.mutations.add_row(site=0, node=0, derived_state="T")
ts = tables.tree_sequence()
display(ts.draw_svg())
display(ts)
ts.write_vcf(sys.stdout)
_images/export_9_0.svg
Tree Sequence
Trees1
Sequence Length10.0
Time Unitsunknown
Sample Nodes4
Total Size1.1 KiB
MetadataNo Metadata
Table Rows Size Has Metadata
Edges 6 200 Bytes
Individuals 0 24 Bytes
Migrations 0 8 Bytes
Mutations 1 53 Bytes
Nodes 7 204 Bytes
Populations 0 8 Bytes
Provenances 1 507 Bytes
Sites 1 41 Bytes
##fileformat=VCFv4.2
##source=tskit 0.5.2
##FILTER=<ID=PASS,Description="All filters passed">
##contig=<ID=1,length=10>
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	tsk_0	tsk_1	tsk_2	tsk_3
1	3	0	A	T	.	PASS	.	GT	1	0	0	0

Here we define a tree sequence consisting of a single tree, which has a variant site at position 3 and a mutation over node 0. There is no information about individuals in this tree sequence, and so we assume that each of the nodes corresponds to a single haploid individual.

Users of msprime simulations would often be interested in producing VCFs for diploid organisms. Because of the assumptions made by these simulations, this means arbitrarily combining the sample nodes into pairs. This is what the ploidy option does:

ts.write_vcf(sys.stdout, ploidy=2)
##fileformat=VCFv4.2
##source=tskit 0.5.2
##FILTER=<ID=PASS,Description="All filters passed">
##contig=<ID=1,length=10>
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	tsk_0	tsk_1
1	3	0	A	T	.	PASS	.	GT	1|0	0|0

Thus, the GT values for the (synthetic) diploid individual tsk_0 are generated by combining nodes 0 and 1, and tsk_1 by combining nodes 2 and 3.

Important

Software packages modelling multiploid individuals are encouraged to use the individual table to make their assumptions explicit. Recent versions of simulators and inference methods should all do this, and so the ploidy argument is really only intended to support legacy code. It is therefore an error to supply a value for ploidy when individual information is present in a tree sequence.

With individuals

Extending the example in the previous section, we add some individual data defining a pair of diploid sibs and their parents.

Note

We set the nodes for (e.g.) individual 2 to [1, 3] here to illustrate that nodes for a given individual are not necessarily contiguous.

tables.individuals.add_row(parents=[-1, -1])
tables.individuals.add_row(parents=[-1, -1])
tables.individuals.add_row(parents=[0, 1])
tables.individuals.add_row(parents=[0, 1])
node_individual = tables.nodes.individual
node_individual[[1, 3]] = 2
node_individual[[0, 2]] = 3
tables.nodes.individual = node_individual
display(tables.individuals)
display(tables.nodes)
ts = tables.tree_sequence()
ts.write_vcf(sys.stdout)
idflagslocationparentsmetadata
00-1, -1
10-1, -1
200, 1
300, 1
idflagspopulationindividualtimemetadata
01-130
11-120
21-130
31-120
40-1-11
50-1-11
60-1-12
##fileformat=VCFv4.2
##source=tskit 0.5.2
##FILTER=<ID=PASS,Description="All filters passed">
##contig=<ID=1,length=10>
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	tsk_0	tsk_1
1	3	0	A	T	.	PASS	.	GT	0|0	1|0

In this model we have four individuals defined, but only individuals 2 and 3 are associated with nodes (more specifically, sample nodes). Thus, we output two VCF sample individuals composed of the linked nodes.

Note

Note that the labels are tsk_0 and tsk_1 even though the individual IDs are 2 and 3. See the Individual names section for how to change the these default labels.

Individual names

By default the VCF samples are given the labels tsk_0, tsk_1, …, tsk_{N - 1}, where N is the number of individuals to be output (see the Constructing GT values section).

We can change this default labelling using the individual_names argument::

import sys
import msprime
ts = msprime.sim_ancestry(
    samples=3, ploidy=2, sequence_length=10, random_seed=2)
ts = msprime.sim_mutations(ts, rate=0.1, random_seed=2)
ts.write_vcf(sys.stdout, individual_names=["A", "B", "C"])
##fileformat=VCFv4.2
##source=tskit 0.5.2
##FILTER=<ID=PASS,Description="All filters passed">
##contig=<ID=1,length=10>
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	A	B	C
1	2	0	A	T,G	.	PASS	.	GT	0|0	0|0	2|2
1	3	1	C	T	.	PASS	.	GT	0|0	0|1	0|0
1	4	2	G	C	.	PASS	.	GT	1|0	1|1	0|0
1	6	3	C	T	.	PASS	.	GT	1|0	1|1	0|0
1	9	4	A	C	.	PASS	.	GT	0|0	1|0	0|0

Modifying coordinates

Tskit supports continuous genome coordinates, but VCF only supports discrete genome positions. Thus, when we convert a tree sequence that has sites at continuous positions we must discretise the coordinates in some way.

The position_transform argument provides a way to flexibly translate the genomic location of sites in tskit to the appropriate value in VCF. There are two fundamental differences in the way that tskit and VCF define genomic coordinates. The first is that tskit uses floating point values to encode positions, whereas VCF uses integers. Thus, if the tree sequence contains positions at non-integral locations there is an information loss incurred by translating to VCF. By default, we round the site positions to the nearest integer, such that there may be several sites with the same integer position in the output. The second difference between VCF and tskit is that VCF is defined to be a 1-based coordinate system, whereas tskit uses 0-based. However, how coordinates are transformed depends on the VCF parser, and so we do not account for this change in coordinate system by default.

Note

The msprime 0.x legacy API simulates using continuous coordinates. It may be simpler to update your code to use the msprime 1.0 API (which uses discrete coordinates by default) than to work out how to transform coordinates in a way that is suitable for your application.

Todo

Provide some examples of using position transform.