Module simuPOP.sampling

Introduction

Sampling, in simuPOP term, is the action of extracting individuals from a large, potentially multi-generational, population according to certain criteria. the simuPOP.sampling module provides several classes and functions and allows you to define more complicated sampling schemes by deriving from its these class. For example, you can use drawRandomSample(pop, size=100) to select 100 random individuals from a population, or use drawAffectedSibpairSample(pop, families=100) to select 100 pairs of affected invididuals with their parents from a multi-generational population, or a age- structured population with parents and offspring in the same generation.

The simuPOP.sampling module currently support random, case control, affected sibpair, nuclear family and three-generation family sampling types, and a combined sampling type that allows you to draw different types of samples. For each sampling type X, a sampler class and two functions DrawXSample and DrawXSamples are provided The first function returns a population with all sampled individuals and the second function returns a list of sample populations.

If you would like to define your own sampling type, you can derive your sampler from one of the existing sampler classes. These sampler classes provide member functions prepareSample, drawSample and drawSamples and you typically only need to extend prepareSample of an appropriate base class.

Sampling individuals randomly (class RandomSampler, functions drawRandomSample and drawRandomSamples)

Functions drawRandomSample and drawRandomSamples draw random invidiauls from a given population. If a simple number is given to parameter size, population structure will be ignored so individuals will be drawn from all subpopulations. If a list of numbers are given, this function will draw specified numbers of individuals from each subpopulation. This function does not need parental information. If your population does not have an ID field, you will not be able to locate extracted individuals in the original population.

Example randomSample demonstrates how to draw a random sample from the whole population, and from each subpopulation. Because sample populations keep the population structure of the source population (this might change when parameter subPops is used, see a later section for details), we can use sample.subPopSizes() to check how many individuals are sampled from each subpopulation.

Example: Draw random samples from a structured population

>>> import simuPOP as sim
>>> from simuPOP.sampling import drawRandomSample
>>> pop = sim.Population([2000]*5, loci=1)
>>> # sample from the whole population
>>> sample = drawRandomSample(pop, sizes=500)
>>> print(sample.subPopSizes())
(104, 105, 110, 81, 100)
>>> # sample from each subpopulation
>>> sample = drawRandomSample(pop, sizes=[100]*5)
>>> print(sample.subPopSizes())
(100, 100, 100, 100, 100)

now exiting runScriptInteractively...

Download randomSample.py

Sampling cases and controls (class CaseControlSampler, functions CaseControlSample and CaseControlSamples)

Functions drawCaseControlSample and drawCaseControlSamples draw cases (affected individuals) and controls (unaffected invidiauls) from a given population. If a simple number is given to parameter cases and controls, population structure will be ignored so individuals will be drawn from all subpopulations. If a list of numbers are given, this function will draw specified number of cases and controls from each subpopulation.

Example caseControlSample demonstrates how to draw multiple case-control samples from a population, and perform case-control assocition tests using the stat function.

Example: Draw case control samples from a population and perform association test

>>> import simuPOP as sim
>>> from simuPOP.sampling import drawCaseControlSamples
>>> pop = sim.Population([10000], loci=5)
>>> sim.initGenotype(pop, freq=[0.2, 0.8])
>>> sim.maPenetrance(pop, loci=2, penetrance=[0.11, 0.15, 0.20])
>>> # draw multiple case control sample
>>> samples = drawCaseControlSamples(pop, cases=500, controls=500, numOfSamples=5)
>>> for sample in samples:
...     sim.stat(sample, association=range(5))
...     print(', '.join(['%.6f' % sample.dvars().Allele_ChiSq_p[x] for x in range(5)]))
...
0.694748, 0.333041, 0.001039, 0.078127, 0.774085
0.261750, 0.954592, 0.031830, 0.737788, 0.865679
0.954949, 0.371093, 0.092487, 0.622153, 0.075739
0.654721, 0.433848, 0.002859, 0.696375, 0.956630
0.439721, 1.000000, 0.069651, 0.471087, 0.238199

now exiting runScriptInteractively...

Download caseControlSample.py

Sampling Pedigrees (functions indexToID and plotPedigree)

If your sampling scheme involves parental information, you need to prepare your population so that it has

  • an ID field (usually 'ind_id') that stores a unique ID for each individual.
  • two information fields (usually 'father_id', and 'mother_id') that stores the ID of parents of each individual. Although simuPOP supports one- parent Pedigrees, this feature will not be discussed in this guide.

The preferred method to prepare such a population is to add information fields ind_id, father_id and mother_id to a population and track ID based Pedigrees during evolution. More specifically, you can use operators IdTagger and PedigreeTagger to assign IDs and record parental IDs of each offspring during mating. This method supports age-structured population when parents and offspring can be stored in the same generation.

You can also use information fields father_idx and mother_idx and operator ParentsTagger to track indexes of parents in the parental generations. Before sampling, you can use function indexToID to add needed information fields and convert index based parental relationship to ID based relationshop. Because parents have to stay in ancestral generations, this method does not support age-structured population.

If you have R and rpy installed on your system, you can install the kinship library of R and use it to analyze Pedigree. The simuPOP.sampling module provides a function plotPedigree to use this library to plot Pedigrees. Example plotPedigree demonstrates how to use function sampling.indexToID to prepare a pedigree and how to use sampling.DrawPedigree to plot it.

Figure fig_Pedigree plots a small three-generational population with 15 individuals at each generation. It is pretty clear that random mating produces bad pedigree structure because it is common that one parent would have multiple spouses.

Sampling affected sibpairs (class AffectedSibpairSampler, functions drawAffectedSibpairSample(s))

An affected sibpair family consists of two parents and their affected offspring. Such families are useful in linkage analysis because of high likelihood of shared disease predisposing alleles between siblings. simuPOP.sampling module provides functions drawAffectedSibpairSample and drawAffectedSibpairSamples to draw such families from a population. Example sampleAffectedSibpair draws two affected sibpair from the pedigree created in Example plotPedigree, with samples plotted in Figure fig_affectedSibpair.

Example: Draw affected sibpairs from a population

>>> import simuPOP as sim
>>> from simuPOP.sampling import indexToID
>>> pop = sim.Population(size=15, loci=5, infoFields=['father_idx', 'mother_idx'], ancGen=2)
>>> pop.evolve(
...     preOps=[
...         sim.InitSex(),
...         sim.InitGenotype(freq=[0.7, 0.3]),
...     ],
...     matingScheme=sim.RandomMating(numOffspring=(sim.UNIFORM_DISTRIBUTION, 2, 4),
...         ops=[sim.MendelianGenoTransmitter(), sim.ParentsTagger()]),
...     postOps=sim.MaPenetrance(loci=3, penetrance=(0.1, 0.4, 0.7)),
...     gen = 5
... )
5
>>> indexToID(pop, reset=True)
>>> # three information fields were added
>>> print(pop.infoFields())
('father_idx', 'mother_idx', 'ind_id', 'father_id', 'mother_id')
>>> # save this population for future use
>>> pop.save('log/pedigree.pop')
>>>
>>> from simuPOP.sampling import drawAffectedSibpairSample
>>> pop = sim.loadPopulation('log/pedigree.pop')
>>> sample = drawAffectedSibpairSample(pop, families=2)
Warning: number of requested Pedigrees 2 is greater than what exists (0).
Warning: not enough non-overlapping Pedigrees are found (requested 2, found 0).

now exiting runScriptInteractively...

Download sampleAffectedSibpair.py

Sampling nuclear families (class NuclearFamilySampler, functions drawNuclearFamilySample and drawNuclearFamilySamples)

A nuclear family consists of two parents and their offspring. Functions drawNuclearFamilySample and drawNuclearFamilySamples to draw such families from a population, with restrictions on number of offspring, number of affected parents and number of affected offspring. Although fixed numbers could be given, a range with minimal and maximal acceptable numbers are usually provided. Example sampleNuclearFamily draws two nuclear families from the pedigree created in Example plotPedigree. The samples are plotted in Figure fig_nuclearFamily.

Example: Draw nuclear families from a population

>>> import simuPOP as sim
>>> from simuPOP.sampling import drawNuclearFamilySample
>>> pop = sim.loadPopulation('log/pedigree.pop')
>>> sample = drawNuclearFamilySample(pop, families=2, numOffspring=(2,4),
...     affectedParents=(1,2), affectedOffspring=(1, 3))
Warning: number of requested Pedigrees 2 is greater than what exists (0).
Warning: not enough non-overlapping Pedigrees are found (requested 2, found 0).
>>> # try to separate two families?
>>> sample.asPedigree()
>>> #= sim.Pedigree(sample, loci=sim.ALL_AVAIL, infoFields=sim.ALL_AVAIL)
>>> sample.addInfoFields('ped_id')
>>> # return size of families
>>> sz = sample.identifyFamilies(pedField='ped_id')
>>> print(sz)
()
>>> ped1 = sample.extractIndividuals(IDs=0, idField='ped_id')
>>> # print the ID of all individuals in the first pedigree
>>> print([ind.ind_id for ind in ped1.allIndividuals()])
[]

now exiting runScriptInteractively...

Download sampleNuclearFamily.py

Sampling three-generation families (class ThreeGenFamilySampler, functions drawThreeGenFamilySample and drawThreeGenFamilySamples)

A three-generation family consists of two parents, their common offspring, offspring’s spouses, and their common offspring (grandchidren). individuals in sampled families have either no or two parents. Functions drawThreeGenFamilySample and drawThreeGenFamilySamples to draw such families from a population, with restrictions on number of offspring, total number of individuals and number of affected individuals in the Pedigree. These parameters (numOffspring, pedSize and numAffected) could be a fixed number of a range with minimal and maximal acceptable numbers. Example sampleNuclearFamily draws two three generation families from the pedigree created in Example plotPedigree. The samples are plotted in Figure fig_nuclearFamily.

Example: Draw three-generation families from a population

>>> import simuPOP as sim
>>> from simuPOP.sampling import drawThreeGenFamilySample
>>> pop = sim.loadPopulation('log/pedigree.pop')
>>> sample = drawThreeGenFamilySample(pop, families=2, numOffspring=(1, 3),
...     pedSize=(8, 15), numOfAffected=(2, 5))

now exiting runScriptInteractively...

Download sampleThreeGenFamily.py

Sampling different types of samples (class CombinedSampler, functions drawCombinedSample and drawCombinedSamples)

Samples in real world studies sometimes do not have uniform types so it is useful to draw samples of different types from the same population. Although it is possible to draw samples using different functions and combine them, handling of overlapping individuals, namely individuals who are chosen by multiple samplers, can be a headache. The combined sampler of simuPOP.sampling is designed to overcome this problem. This sampler takes a list of sampler objects and apply them to a population sequentially. The extracted sample will not have overlapping individuals.

Example combinedSampling draws an affected sibpair family and a nuclear family from the pedigree created in Example plotPedigree. The samples are plotted in Figure combinedSampling.

Example: Draw different types of samples from a population

>>> import simuPOP as sim
>>> from simuPOP.sampling import drawCombinedSample, AffectedSibpairSampler, NuclearFamilySampler
>>> pop = sim.loadPopulation('log/pedigree.pop')
>>> sample = drawCombinedSample(pop, samplers = [
...     AffectedSibpairSampler(families=1),
...     NuclearFamilySampler(families=1, numOffspring=(2,4), affectedParents=(1,2), affectedOffspring=(1,3))
...     ])
Warning: number of requested Pedigrees 1 is greater than what exists (0).
Warning: not enough non-overlapping Pedigrees are found (requested 1, found 0).
Warning: number of requested Pedigrees 1 is greater than what exists (0).
Warning: not enough non-overlapping Pedigrees are found (requested 1, found 0).

now exiting runScriptInteractively...

Download combinedSampling.py

Sampling from subpopulations and virtual subpopulations *

Virtual subpopulations (VSPs) could be specified in the subPops parameter of sampling classes and functions. This can be used to limit your samples to individuals with certain properties. For example, you may want to match the age of cases and controls in a case-control association study by selecting your samples from a certain age group. For examples, Example samplingVSP draws 500 cases and 500 controls from two a VSP with individual ages between 40 and 60.

Example: Draw samples from a virtual subpopulation.

>>> import simuPOP as sim
>>> # create an age-structured population with a disease
>>> import random
>>> pop = sim.Population(10000, loci=10, infoFields='age')
>>> sim.initGenotype(pop, freq=[0.3, 0.7])
>>> sim.initInfo(pop, lambda: random.randint(0, 70), infoFields='age')
>>> pop.setVirtualSplitter(sim.InfoSplitter(cutoff=(40, 60), field='age'))
>>> sim.maPenetrance(pop, loci=5, penetrance=(0.1, 0.2, 0.3))
>>> #
>>> from simuPOP.sampling import drawCaseControlSample
>>> sample = drawCaseControlSample(pop, cases=500, controls=500, subPops=[(0,1)])
>>> ageInSample = sample.indInfo('age')
>>> print(min(ageInSample), max(ageInSample))
40.0 59.0

now exiting runScriptInteractively...

Download samplingVSP.py

If a list of sample sizes is given, specified number of samples will be drawn from each subpopulation. For example, if you have an age-structured population when individuals with different ages have different risk to a disease, you might want to draw affected individuals from different age groups and perform association analyses. Function drawCaseControlSample cannot be used because both groups are affected, but you can drawRandomSample from two VSPs defined by age. Example samplingSeparateVSPs demonstrates how to use this method.

Example: Sampling separately from different virtual subpopulations

>>> import simuPOP as sim
>>> # create an age-structured population with a disease
>>> import random
>>> pop = sim.Population(10000, loci=10, infoFields='age')
>>> sim.initGenotype(pop, freq=[0.3, 0.7])
>>> sim.initInfo(pop, lambda: random.randint(0, 70), infoFields='age')
>>> pop.setVirtualSplitter(sim.InfoSplitter(cutoff=(20, 40), field='age'))
>>> # different age group has different penetrance
>>> sim.maPenetrance(pop, loci=5, penetrance=(0.1, 0.2, 0.3), subPops=[(0,1)])
>>> sim.maPenetrance(pop, loci=5, penetrance=(0.2, 0.4, 0.6), subPops=[(0,2)])
>>> # count the number of affected individuals in each group
>>> sim.stat(pop, numOfAffected=True, subPops=[(0,1), (0,2)], vars='numOfAffected_sp')
>>> print(pop.dvars((0,1)).numOfAffected, pop.dvars((0,2)).numOfAffected)
668 2215
>>> #
>>> from simuPOP.sampling import drawRandomSample
>>> sample = drawRandomSample(pop, sizes=[500, 500], subPops=[(0,1), (0,2)])
>>> # virtual subpopulations are rearranged to different subpopulations.
>>> print(sample.subPopSizes())
(500, 500)

now exiting runScriptInteractively...

Download samplingSeparateVSPs.py