Coalescence times for three genes provide sufficient information to distinguish population structure from population size changes

The increasing amount of genomic data currently available is expanding the horizons of population genetics inference. A wide range of methods have been published allowing to detect and date major changes in population size during the history of species. At the same time, there has been an increasing...

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Published inJournal of mathematical biology Vol. 78; no. 1-2; pp. 189 - 224
Main Authors Grusea, Simona, Rodríguez, Willy, Pinchon, Didier, Chikhi, Lounès, Boitard, Simon, Mazet, Olivier
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer Berlin Heidelberg 01.01.2019
Springer Nature B.V
Springer
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Abstract The increasing amount of genomic data currently available is expanding the horizons of population genetics inference. A wide range of methods have been published allowing to detect and date major changes in population size during the history of species. At the same time, there has been an increasing recognition that population structure can generate genetic data similar to those generated under models of population size change. Recently, Mazet et al. (Heredity 116(4):362–371, 2016 ) introduced the idea that, for any model of population structure, it is always possible to find a panmictic model with a particular function of population size-change having an identical distribution of T 2 (the time of the first coalescence for a sample of size two). This implies that there is an identifiability problem between a panmictic and a structured model when we base our analysis only on T 2 . In this paper, based on an analytical study of the rate matrix of the ancestral lineage process, we obtain new theoretical results about the joint distribution of the coalescence times ( T 3 , T 2 ) for a sample of three haploid genes in a n -island model with constant size. Even if, for any k ≥ 2 , it is always possible to find a size-change scenario for a panmictic population such that the marginal distribution of T k is exactly the same as in a n -island model with constant population size, we show that the joint distribution of the coalescence times ( T 3 , T 2 ) for a sample of three genes contains enough information to distinguish between a panmictic population and a n -island model of constant size.
AbstractList The increasing amount of genomic data currently available is expanding the horizons of population genetics inference. A wide range of methods have been published allowing to detect and date major changes in population size during the history of species. At the same time, there has been an increasing recognition that population structure can generate genetic data similar to those generated under models of population size change. Recently, Mazet et al. (Heredity 116(4):362-371, 2016) introduced the idea that, for any model of population structure, it is always possible to find a panmictic model with a particular function of population size-change having an identical distribution of [Formula: see text] (the time of the first coalescence for a sample of size two). This implies that there is an identifiability problem between a panmictic and a structured model when we base our analysis only on [Formula: see text]. In this paper, based on an analytical study of the rate matrix of the ancestral lineage process, we obtain new theoretical results about the joint distribution of the coalescence times [Formula: see text] for a sample of three haploid genes in a n-island model with constant size. Even if, for any [Formula: see text], it is always possible to find a size-change scenario for a panmictic population such that the marginal distribution of [Formula: see text] is exactly the same as in a n-island model with constant population size, we show that the joint distribution of the coalescence times [Formula: see text] for a sample of three genes contains enough information to distinguish between a panmictic population and a n-island model of constant size.
The increasing amount of genomic data currently available is expanding the horizons of population genetics inference. A wide range of methods have been published allowing to detect and date major changes in population size during the history of species. At the same time, there has been an increasing recognition that population structure can generate genetic data similar to those generated under models of population size change. Recently, Mazet introduced the idea that, for any model of population structure, it is always possible to find a panmictic model with a particular function of population size change having an identical distribution of T_2 (the time of the first coalescence for a sample of size two). This implies that there is an identifiability problem between a panmictic and a structured model when we base our analysis only on T_2. A natural question that deserves to be explored is whether and when this identifiability problem disappears for larger sample sizes. In this paper, based on an analytical study of the rate matrix (or Q-matrix) of the ancestral lineage process, we obtain new theoretical results about the joint distribution of the coalescence times (T_3,T_2) for a sample of three haploid genes in a $n$-island model with constant size. In particular, we show that this distribution is always different from the analogous one obtained in a panmictic population, for any scenario of population size-change. Even if, for any k >= 2, it is always possible to find a size-change scenario for a panmictic population such that the marginal distribution of T_2 is exactly the same as in a $n$-island model with constant population size, we show that the joint distribution of the coalescence times (T_3,T_2) for a sample of three genes contains enough information to distinguish between a panmictic population and a n-island model of constant size.
The increasing amount of genomic data currently available is expanding the horizons of population genetics inference. A wide range of methods have been published allowing to detect and date major changes in population size during the history of species. At the same time, there has been an increasing recognition that population structure can generate genetic data similar to those generated under models of population size change. Recently, Mazet et al. (Heredity 116(4):362–371, 2016) introduced the idea that, for any model of population structure, it is always possible to find a panmictic model with a particular function of population size-change having an identical distribution of \[T_{2}\] (the time of the first coalescence for a sample of size two). This implies that there is an identifiability problem between a panmictic and a structured model when we base our analysis only on \[T_2\]. In this paper, based on an analytical study of the rate matrix of the ancestral lineage process, we obtain new theoretical results about the joint distribution of the coalescence times \[(T_3,T_2)\] for a sample of three haploid genes in a n-island model with constant size. Even if, for any \[k \ge 2\], it is always possible to find a size-change scenario for a panmictic population such that the marginal distribution of \[T_k\] is exactly the same as in a n-island model with constant population size, we show that the joint distribution of the coalescence times \[(T_3,T_2)\] for a sample of three genes contains enough information to distinguish between a panmictic population and a n-island model of constant size.
The increasing amount of genomic data currently available is expanding the horizons of population genetics inference. A wide range of methods have been published allowing to detect and date major changes in population size during the history of species. At the same time, there has been an increasing recognition that population structure can generate genetic data similar to those generated under models of population size change. Recently, Mazet et al. (Heredity 116(4):362–371, 2016 ) introduced the idea that, for any model of population structure, it is always possible to find a panmictic model with a particular function of population size-change having an identical distribution of T 2 (the time of the first coalescence for a sample of size two). This implies that there is an identifiability problem between a panmictic and a structured model when we base our analysis only on T 2 . In this paper, based on an analytical study of the rate matrix of the ancestral lineage process, we obtain new theoretical results about the joint distribution of the coalescence times ( T 3 , T 2 ) for a sample of three haploid genes in a n -island model with constant size. Even if, for any k ≥ 2 , it is always possible to find a size-change scenario for a panmictic population such that the marginal distribution of T k is exactly the same as in a n -island model with constant population size, we show that the joint distribution of the coalescence times ( T 3 , T 2 ) for a sample of three genes contains enough information to distinguish between a panmictic population and a n -island model of constant size.
Author Pinchon, Didier
Boitard, Simon
Rodríguez, Willy
Grusea, Simona
Chikhi, Lounès
Mazet, Olivier
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Issue 1-2
Keywords Structured coalescent
Rate matrix
92D15
Inverse instantaneous coalescence rate (IICR)
Population structure
Demographic history
60J27
60J35
Population size change
60E05
15A18
rate matrix
IICR (inverse instantaneous coalescence rate)
population structure
population size change
demographic history
structured coalescent
Language English
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PublicationTitle Journal of mathematical biology
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PublicationYear 2019
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– name: Springer
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  publication-title: Theory Probab Appl
  doi: 10.1137/1118101
  contributor:
    fullname: SS Vallander
– volume: 153
  start-page: 1863
  issue: 4
  year: 1999
  ident: 1272_CR36
  publication-title: Genetics
  doi: 10.1093/genetics/153.4.1863
  contributor:
    fullname: J Wakeley
SSID ssj0017591
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Snippet The increasing amount of genomic data currently available is expanding the horizons of population genetics inference. A wide range of methods have been...
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StartPage 189
SubjectTerms Applications of Mathematics
Change detection
Coalescence
Coalescing
General Mathematics
Genes
Genetics
Heredity
Life Sciences
Mathematical and Computational Biology
Mathematics
Mathematics and Statistics
Population
Population genetics
Population number
Population structure
Populations and Evolution
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Title Coalescence times for three genes provide sufficient information to distinguish population structure from population size changes
URI https://link.springer.com/article/10.1007/s00285-018-1272-4
https://www.ncbi.nlm.nih.gov/pubmed/30030601
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Volume 78
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