Archive for population genetics

Naturally amazed at non-identifiability

Posted in Books, Statistics, University life with tags , , , , , , , , , , , on May 27, 2020 by xi'an

A Nature paper by Stilianos Louca and Matthew W. Pennell,  Extant time trees are consistent with a myriad of diversification histories, comes to the extraordinary conclusion that birth-&-death evolutionary models cannot distinguish between several scenarios given the available data! Namely, stem ages and daughter lineage ages cannot identify the speciation rate function λ(.), the extinction rate function μ(.)  and the sampling fraction ρ inherently defining the deterministic ODE leading to the number of species predicted at any point τ in time, N(τ). The Nature paper does not seem to make a point beyond the obvious and I am rather perplexed at why it got published [and even highlighted]. A while ago, under the leadership of Steve, PNAS decided to include statistician reviewers for papers relying on statistical arguments. It could time for Nature to move there as well.

“We thus conclude that two birth-death models are congruent if and only if they have the same rp and the same λp at some time point in the present or past.” [S.1.1, p.4]

Or, stated otherwise, that a tree structured dataset made of branch lengths are not enough to identify two functions that parameterise the model. The likelihood looks like

\frac{\rho^{n-1}\Psi(\tau_1,\tau_0)}{1-E(\tau)}\prod_{i=1}^n \lambda(\tau_i)\Psi(s_{i,1},\tau_i)\Psi(s_{i,2},\tau_i)$

where E(.) is the probability to survive to the present and ψ(s,t) the probability to survive and be sampled between times s and t. Sort of. Both functions depending on functions λ(.) and  μ(.). (When the stem age is unknown, the likelihood changes a wee bit, but with no changes in the qualitative conclusions. Another way to write this likelihood is in term of the speciation rate λp

e^{-\Lambda_p(\tau_0)}\prod_{i=1}^n\lambda_p(\tau_I)e^{-\Lambda_p(\tau_i)}

where Λp is the integrated rate, but which shares the same characteristic of being unable to identify the functions λ(.) and μ(.). While this sounds quite obvious the paper (or rather the supplementary material) goes into fairly extensive mode, including “abstract” algebra to define congruence.

 

“…we explain why model selection methods based on parsimony or “Occam’s razor”, such as the Akaike Information Criterion and the Bayesian Information Criterion that penalize excessive parameters, generally cannot resolve the identifiability issue…” [S.2, p15]

As illustrated by the above quote, the supplementary material also includes a section about statistical model selections techniques failing to capture the issue, section that seems superfluous or even absurd once the fact that the likelihood is constant across a congruence class has been stated.

Monte Carlo Markov chains

Posted in Books, Statistics, University life with tags , , , , , , , , , , , , , , , , , , , , , , on May 12, 2020 by xi'an

Darren Wraith pointed out this (currently free access) Springer book by Massimiliano Bonamente [whose family name means good spirit in Italian] to me for its use of the unusual Monte Carlo Markov chain rendering of MCMC.  (Google Trend seems to restrict its use to California!) This is a graduate text for physicists, but one could nonetheless expect more rigour in the processing of the topics. Particularly of the Bayesian topics. Here is a pot-pourri of memorable quotes:

“Two major avenues are available for the assignment of probabilities. One is based on the repetition of the experiments a large number of times under the same conditions, and goes under the name of the frequentist or classical method. The other is based on a more theoretical knowledge of the experiment, but without the experimental requirement, and is referred to as the Bayesian approach.”

“The Bayesian probability is assigned based on a quantitative understanding of the nature of the experiment, and in accord with the Kolmogorov axioms. It is sometimes referred to as empirical probability, in recognition of the fact that sometimes the probability of an event is assigned based upon a practical knowledge of the experiment, although without the classical requirement of repeating the experiment for a large number of times. This method is named after the Rev. Thomas Bayes, who pioneered the development of the theory of probability.”

“The likelihood P(B/A) represents the probability of making the measurement B given that the model A is a correct description of the experiment.”

“…a uniform distribution is normally the logical assumption in the absence of other information.”

“The Gaussian distribution can be considered as a special case of the binomial, when the number of tries is sufficiently large.”

“This clearly does not mean that the Poisson distribution has no variance—in that case, it would not be a random variable!”

“The method of moments therefore returns unbiased estimates for the mean and variance of every distribution in the case of a large number of measurements.”

“The great advantage of the Gibbs sampler is the fact that the acceptance is 100 %, since there is no rejection of candidates for the Markov chain, unlike the case of the Metropolis–Hastings algorithm.”

Let me then point out (or just whine about!) the book using “statistical independence” for plain independence, the use of / rather than Jeffreys’ | for conditioning (and sometimes forgetting \ in some LaTeX formulas), the confusion between events and random variables, esp. when computing the posterior distribution, between models and parameter values, the reliance on discrete probability for continuous settings, as in the Markov chain chapter, confusing density and probability, using Mendel’s pea data without mentioning the unlikely fit to the expected values (or, as put more subtly by Fisher (1936), “the data of most, if not all, of the experiments have been falsified so as to agree closely with Mendel’s expectations”), presenting Fisher’s and Anderson’s Iris data [a motive for rejection when George was JASA editor!] as a “a new classic experiment”, mentioning Pearson but not Lee for the data in the 1903 Biometrika paper “On the laws of inheritance in man” (and woman!), and not accounting for the discrete nature of this data in the linear regression chapter, the three page derivation of the Gaussian distribution from a Taylor expansion of the Binomial pmf obtained by differentiating in the integer argument, spending endless pages on deriving standard properties of classical distributions, this appalling mess of adding over the conditioning atoms with no normalisation in a Poisson experiment

P(X=4|\mu=0,1,2) = \sum_{\mu=0}^2 \frac{\mu^4}{4!}\exp\{-\mu\},

botching the proof of the CLT, which is treated before the Law of Large Numbers, restricting maximum likelihood estimation to the Gaussian and Poisson cases and muddling its meaning by discussing unbiasedness, confusing a drifted Poisson random variable with a drift on its parameter, as well as using the pmf of the Poisson to define an area under the curve (Fig. 5.2), sweeping the improperty of a constant prior under the carpet, defining a null hypothesis as a range of values for a summary statistic, no mention of Bayesian perspectives in the hypothesis testing, model comparison, and regression chapters, having one-dimensional case chapters followed by two-dimensional case chapters, reducing model comparison to the use of the Kolmogorov-Smirnov test, processing bootstrap and jackknife in the Monte Carlo chapter without a mention of importance sampling, stating recurrence results without assuming irreducibility, motivating MCMC by the intractability of the evidence, resorting to the term link to designate the current value of a Markov chain, incorporating the need for a prior distribution in a terrible description of the Metropolis-Hastings algorithm, including a discrete proof for its stationarity, spending many pages on early 1990’s MCMC convergence tests rather than discussing the adaptive scaling of proposal distributions, the inclusion of numerical tables [in a 2017 book] and turning Bayes (1763) into Bayes and Price (1763), or Student (1908) into Gosset (1908).

[Usual disclaimer about potential self-plagiarism: this post or an edited version of it could possibly appear later in my Books Review section in CHANCE. Unlikely, though!]

another mirror of ABC in Gre[e]noble

Posted in Statistics with tags , , , , , , , , , , on March 3, 2020 by xi'an

There will now be a second mirror workshop of ABC in Grenoble. Taking place at the Université de Montpellier, more precisely at the Alexander Grothendieck Montpellier Institute, Building 9, room 430 (4th floor), Triolet Campus. It is organised by my friend Jean-Michel Marin. Great to see a mirror at one of the major breeding places of ABC, where I personally heard of ABC for the first time and met several of the main A[B]Ctors..! The dates are 19-20 March, with talks transmitted from 9am to 5am [GMT+1]. Since the video connection can accommodate 1918 more mirrors, if anyone else is interested in organising another mirror, please contact me for technical details.

down with Galton (and Pearson and Fisher…)

Posted in Books, Statistics, University life with tags , , , , , , , , , , , , , , , on July 22, 2019 by xi'an


In the last issue of Significance, which I read in Warwick prior to the conference, there is a most interesting article on Galton’s eugenics, his heritage at University College London (UCL), and the overall trouble with honouring prominent figures of the past with memorials like named building or lectures… The starting point of this debate is a protest from some UCL students and faculty about UCL having a lecture room named after the late Francis Galton who was a professor there. Who further donated at his death most of his fortune to the university towards creating a professorship in eugenics. The protests are about Galton’s involvement in the eugenics movement of the late 18th and early 19th century. As well as professing racist opinions.

My first reaction after reading about these protests was why not?! Named places or lectures, as well as statues and other memorials, have a limited utility, especially when the named person is long dead and they certainly do not contribute in making a scientific theory [associated with the said individual] more appealing or more valid. And since “humans are [only] humans”, to quote Stephen Stigler speaking in this article, it is unrealistic to expect great scientists to be perfect, the more if one multiplies the codes for ethical or acceptable behaviours across ages and cultures. It is also more rational to use amphitheater MS.02 and lecture room AC.18 rather than associate them with one name chosen out of many alumni’s or former professors’.

Predictably, another reaction of mine was why bother?!, as removing Galton’s name from the items it is attached to is highly unlikely to change current views on eugenism or racism. On the opposite, it seems to detract from opposing the present versions of these ideologies. As some recent proposals linking genes and some form of academic success. Another of my (multiple) reactions was that as stated in the article these views of Galton’s reflected upon the views and prejudices of the time, when the notions of races and inequalities between races (as well as genders and social classes) were almost universally accepted, including in scientific publications like the proceedings of the Royal Society and Nature. When Karl Pearson launched the Annals of Eugenics in 1925 (after he started Biometrika) with the very purpose of establishing a scientific basis for eugenics. (An editorship that Ronald Fisher would later take over, along with his views on the differences between races, believing that “human groups differ profoundly in their innate capacity for intellectual and emotional development”.) Starting from these prejudiced views, Galton set up a scientific and statistical approach to support them, by accumulating data and possibly modifying some of these views. But without much empathy for the consequences, as shown in this terrible quote I found when looking for more material:

“I should feel but little compassion if I saw all the Damaras in the hand of a slave-owner, for they could hardly become more wretched than they are now…”

As it happens, my first exposure to Galton was in my first probability course at ENSAE when a terrific professor was peppering his lectures with historical anecdotes and used to mention Galton’s data-gathering trip to Namibia, literally measure local inhabitants towards his physiognomical views , also reflected in the above attempt of his to superpose photographs to achieve the “ideal” thief…

ABC by QMC

Posted in Books, Kids, Statistics, University life with tags , , , , , , , , , , on November 5, 2018 by xi'an

A paper by Alexander Buchholz (CREST) and Nicolas Chopin (CREST) on quasi-Monte Carlo methods for ABC is going to appear in the Journal of Computational and Graphical Statistics. I had missed the opportunity when it was posted on arXiv and only became aware of the paper’s contents when I reviewed Alexander’s thesis for the doctoral school. The fact that the parameters are simulated (in ABC) from a prior that is quite generally a standard distribution while the pseudo-observations are simulated from a complex distribution (associated with the intractability of the likelihood function) means that the use of quasi-Monte Carlo sequences is in general only possible for the first part.

The ABC context studied there is close to the original version of ABC rejection scheme [as opposed to SMC and importance versions], the main difference standing with the use of M pseudo-observations instead of one (of the same size as the initial data). This repeated version has been discussed and abandoned in a strict Monte Carlo framework in favor of M=1 as it increases the overall variance, but the paper uses this version to show that the multiplication of pseudo-observations in a quasi-Monte Carlo framework does not increase the variance of the estimator. (Since the variance apparently remains constant when taking into account the generation time of the pseudo-data, we can however dispute the interest of this multiplication, except to produce a constant variance estimator, for some targets, or to be used for convergence assessment.) L The article also covers the bias correction solution of Lee and Latuszyǹski (2014).

Due to the simultaneous presence of pseudo-random and quasi-random sequences in the approximations, the authors use the notion of mixed sequences, for which they extend a one-dimension central limit theorem. The paper focus on the estimation of Z(ε), the normalization constant of the ABC density, ie the predictive probability of accepting a simulation which can be estimated at a speed of O(N⁻¹) where N is the number of QMC simulations, is a wee bit puzzling as I cannot figure the relevance of this constant (function of ε), especially since the result does not seem to generalize directly to other ABC estimators.

A second half of the paper considers a sequential version of ABC, as in ABC-SMC and ABC-PMC, where the proposal distribution is there  based on a Normal mixture with a small number of components, estimated from the (particle) sample of the previous iteration. Even though efficient techniques for estimating this mixture are available, this innovative step requires a calculation time that should be taken into account in the comparisons. The construction of a decreasing sequence of tolerances ε seems also pushed beyond and below what a sequential approach like that of Del Moral, Doucet and Jasra (2012) would produce, it seems with the justification to always prefer the lower tolerances. This is not necessarily the case, as recent articles by Li and Fearnhead (2018a, 2018b) and ours have shown (Frazier et al., 2018). Overall, since ABC methods are large consumers of simulation, it is interesting to see how the contribution of QMC sequences results in the reduction of variance and to hope to see appropriate packages added for standard distributions. However, since the most consuming part of the algorithm is due to the simulation of the pseudo-data, in most cases, it would seem that the most relevant focus should be on QMC add-ons on this part, which may be feasible for models with a huge number of standard auxiliary variables as for instance in population evolution.