Bernoulli and Binomial Distributions
Modeling binary trials and the number of successes
1 Topic at a Glance
One-sentence summary: A Bernoulli variable records one binary trial, while a binomial variable counts successes across a fixed number of independent trials sharing one success probability.
| Item | Description |
|---|---|
| Domain | Probability & Randomness; discrete distributions |
| Main question | How should one binary outcome, or a count of successes in repeated binary trials, vary? |
| Support | Bernoulli: \(\{0,1\}\); binomial: \(\{0,1,\ldots,n\}\) |
| Parameters | Success probability \(p\); fixed trial count \(n\) for the binomial |
| Typical applications | Mutation carriage, assay detection, read classification, responder counts |
| Prerequisites | Random variables and probability distributions; independence and conditional independence |
2 One Binary Trial: The Bernoulli Distribution
Let \(X\) encode failure as 0 and success as 1. For \(0\leq p\leq1\),
\[ X\sim\operatorname{Bernoulli}(p) \]
means
\[ \boxed{P(X=x)=p^x(1-p)^{1-x},\qquad x\in\{0,1\}.} \]
The labels “success” and “failure” are mathematical conventions, not value judgments. Success is simply the event coded 1. Reversing the coding replaces \(p\) with \(1-p\).
Because \(X\) is an indicator, \(X^k=X\) for every positive integer \(k\). Therefore
\[ E(X)=p, \qquad E(X^k)=p, \]
and
\[ \boxed{\operatorname{Var}(X)=E(X^2)-E(X)^2=p(1-p).} \]
The variance is zero at \(p=0\) and \(p=1\), and largest at \(p=1/2\). The mean \(p\) is both the success probability and the long-run average of the zero–one coding.
3 Counting Successes: The Binomial Distribution
Suppose \(X_1,\ldots,X_n\) are independent Bernoulli variables with the same success probability \(p\), and define
\[ Y=\sum_{i=1}^n X_i. \]
Then
\[ Y\sim\operatorname{Binomial}(n,p), \]
with probability mass function
\[ \boxed{ P(Y=y)={n\choose y}p^y(1-p)^{n-y}, \qquad y=0,1,\ldots,n. } \]
The three factors have distinct meanings:
- \({n\choose y}\) counts which \(y\) trials succeed;
- \(p^y\) is the probability contribution from those successes;
- \((1-p)^{n-y}\) is the contribution from the remaining failures.
3.1 Deriving the mass function
Any particular sequence containing \(y\) successes and \(n-y\) failures has probability \(p^y(1-p)^{n-y}\) by independence. There are \({n\choose y}\) such sequences, and they are mutually exclusive. Adding their probabilities produces the binomial mass function.
Normalization follows from the binomial theorem:
\[ \sum_{y=0}^n {n\choose y}p^y(1-p)^{n-y} =\{p+(1-p)\}^n=1. \]
4 Moments and Shape
Linearity of expectation does not require independence, so
\[ E(Y)=\sum_{i=1}^n E(X_i)=np. \]
Independence removes all covariance terms from the variance of the sum:
\[ \boxed{ \operatorname{Var}(Y)=\sum_{i=1}^n p(1-p)=np(1-p). } \]
The standard deviation is \(\sqrt{np(1-p)}\). The distribution is symmetric when \(p=1/2\), right-skewed when \(p\) is small, and left-skewed when \(p\) is large. If \((n+1)p\) is not an integer, the unique mode is \(\lfloor(n+1)p\rfloor\); if it is an integer strictly between 1 and \(n\), two adjacent modes occur.
The probability-generating function makes the sum structure explicit:
\[ G_Y(s)=E(s^Y)=\{(1-p)+ps\}^n. \]
5 Conditions Behind the Binomial Model
The binomial is justified by a data-generating mechanism, not merely by observing a count between 0 and \(n\).
| Condition | Meaning | Typical failure |
|---|---|---|
| Fixed \(n\) | The number of trials is set independently of their outcomes | Sampling stops after a target number of successes |
| Binary outcome | Every trial is classified as success or failure | Ambiguous or multiple outcome categories |
| Common \(p\) | Trials share one success probability | Samples differ in quality, genotype, or exposure |
| Independence | Knowing one outcome does not alter another’s probability | Related organisms, clustered cells, duplicate reads |
Conditional independence deserves care. Trials can be independent given a sample-specific probability \(P\), yet positively associated after \(P\) is averaged over heterogeneous samples. The law of total variance gives
\[ \operatorname{Var}(Y) =E\{nP(1-P)\}+\operatorname{Var}(nP) =n\bar p(1-\bar p)+n(n-1)\operatorname{Var}(P), \]
where \(\bar p=E(P)\). The additional term explains overdispersion relative to a binomial model with probability \(\bar p\).
6 Likelihood and Estimation
For an observed count \(y\) from a binomial model with fixed \(n\), the likelihood for \(p\) is
\[ L(p;y)={n\choose y}p^y(1-p)^{n-y}. \]
The combinatorial factor is constant with respect to \(p\). For \(0<y<n\), differentiating the log-likelihood gives
\[ \frac{d}{dp}\log L(p;y)=\frac{y}{p}-\frac{n-y}{1-p}=0, \]
so the maximum-likelihood estimate is
\[ \boxed{\hat p=\frac{y}{n}.} \]
Under the model, \(E(\hat p)=p\) and \(\operatorname{Var}(\hat p)=p(1-p)/n\). These are repeated-sampling properties of the estimator. The observed fraction \(y/n\) is an estimate, not the unknown population probability itself.
A normal approximation may be reasonable when neither \(np\) nor \(n(1-p)\) is small, but it can be poor near the boundaries or for small \(n\). Exact binomial probabilities, score-based intervals, or a stated Bayesian model avoid treating the approximation as universally valid. The frequently used Wald interval \(\hat p\pm z\sqrt{\hat p(1-\hat p)/n}\) can have poor coverage, especially near 0 or 1.
7 Worked Example: Variant-Supporting Reads
Suppose a sequencing assay yields \(n=20\) usable reads at a locus, and a simplified model gives each read probability \(p=0.10\) of being classified as variant-supporting. If reads were independent conditional on the same \(p\), then
\[ Y\sim\operatorname{Binomial}(20,0.10). \]
The probability of exactly three supporting reads is
\[ P(Y=3)={20\choose3}(0.10)^3(0.90)^{17}\approx0.190. \]
The expected count is \(np=2\), and the variance is \(np(1-p)=1.8\).
This calculation describes read-level measurement variation under strong assumptions. Reads are technical observations from one specimen, not independent biological replicates. PCR duplicates, mapping ambiguity, allele-specific bias, and sample heterogeneity can violate the common-\(p\) or independence conditions. A biological claim about a population requires independently sampled specimens and a model linking their variation to the read-level process.
8 Relationships and Approximations
| Relationship | Result | Key condition |
|---|---|---|
| Bernoulli special case | \(\operatorname{Binomial}(1,p)=\operatorname{Bernoulli}(p)\) | One trial |
| Sum of binomials | If \(Y_j\sim\operatorname{Binomial}(n_j,p)\) independently, then \(\sum_jY_j\sim\operatorname{Binomial}(\sum_jn_j,p)\) | Same \(p\) and independence |
| Poisson limit | \(\operatorname{Binomial}(n,p)\Rightarrow\operatorname{Poisson}(\lambda)\) when \(n\to\infty\), \(p\to0\), \(np\to\lambda\) | Rare events with stable mean |
| Normal approximation | \((Y-np)/\sqrt{np(1-p)}\approx N(0,1)\) | Both expected successes and failures sufficiently large |
| Beta–binomial mixture | Random \(P\sim\operatorname{Beta}(a,b)\) followed by \(Y\mid P\sim\operatorname{Binomial}(n,P)\) | Heterogeneous success probability |
Sampling without replacement from a finite population is hypergeometric, not binomial. When the sampled fraction is very small, the binomial can approximate the hypergeometric because depletion has little effect.
9 Common Pitfalls
- Using a binomial model for any bounded count: the trial-level mechanism and assumptions must be defensible.
- Confusing mutual exclusivity with independence: one trial cannot be both success and failure, but repeated trials may or may not be independent.
- Treating technical observations as biological replicates: more reads reduce some measurement uncertainty but do not increase the number of independent organisms or specimens.
- Ignoring heterogeneity in \(p\): mixtures commonly create more variability than \(np(1-p)\) predicts.
- Using a normal approximation at a boundary: exact or better-calibrated interval methods are preferable when successes or failures are sparse.
- Interpreting \(p\) without defining the trial: the probability changes with the population, protocol, classifier, and conditioning information.
10 Connections to the Knowledge Map
- Random variables and probability distributions defines PMFs, CDFs, and support.
- Counting rules and combinatorial probability explains the coefficient \({n\choose y}\).
- Expectation, variance, and moments supplies the indicator-sum derivation.
- Independence and conditional independence clarifies the factorization behind the binomial model.
- Bayes’ theorem and Bayesian updating develops beta–binomial updating for an unknown \(p\).
- Categorical and multinomial distributions generalizes two outcomes to \(K\) categories.
11 Take-home Messages
- A Bernoulli variable represents one zero–one trial with mean \(p\) and variance \(p(1-p)\).
- A binomial count is a sum of a fixed number of independent Bernoulli trials sharing one \(p\).
- The binomial coefficient counts outcome sequences; independence supplies their product probabilities.
- Heterogeneity, clustering, and sampling without replacement change the variance or the entire probability model.
- Read-level binomial variation does not substitute for biological replication.
12 References
- Casella, G. and Berger, R. L. Statistical Inference, 2nd ed. Duxbury, 2002.
- Johnson, N. L., Kemp, A. W., and Kotz, S. Univariate Discrete Distributions, 3rd ed. Wiley, 2005. https://doi.org/10.1002/0471715816.
- Brown, L. D., Cai, T. T., and DasGupta, A. “Interval Estimation for a Binomial Proportion.” Statistical Science 16(2), 2001, 101–133. https://doi.org/10.1214/ss/1009213286.
- R Core Team. “The Binomial Distribution.” R Statistical Functions Documentation. https://stat.ethz.ch/R-manual/R-devel/library/stats/html/Binomial.html.