Mathematics of Genome Analysis by Jerome K. Percus

By Jerome K. Percus

The large examine attempt referred to as the Human Genome venture is an try to list the series of the 3 trillion nucleotides that make up the human genome and to spot person genes inside this series. the outline and category of sequences is seriously depending on mathematical and statistical types. This brief textbook provides a quick description of numerous ways that arithmetic and information are getting used in genome research and sequencing.

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What we need then is Q x (1, T − 1), and a brief calculation shows that Q x (1, T − 1) = 1 −(L−T ) q −q , p from which we conclude that E(L I ) = T + 1 −(L−T ) −1 , q p or, because q −(L−T ) = (1 − p)−(L−T ) = e p(L−T ) for small p, that E(L I ) = T + 1 p(L−T ) e −1 , p which we have already seen. What deeper questions can we ask? The simplest might be about the dispersion, or standard deviation, of L I (after all, a mean of 10 is not too germane if 10% of the population are 100 and the rest are 0): 1/2 σ (L I ) = E L 2I − E(L I )2  ∞ = k 2 Q k (T − 1) −  1 ∞  k Q k (T − 1) 1 (the constant part of L I does not contribute) = [Q x (1) + Q x (1) − Q x (1)2 ]1/2 = [(ln Q x ) (1) + (ln Q x ) (1)]1/2 , 2 1/2  40 Recomposing DNA where the argument T − 1 is omitted.

The expansion consists, to within sign, of terms Aα , pair terms Aα Aβ , triplets Aα Aβ Aγ , . . , Aα Aβ Aγ → Aγ Aα Aβ , does not create a distinct term. , the number of permutations of s distinct letters. In other words v (1 − Aα ) = 1 − α=1 v α=1 − Aα + 1 v Aα Aβ 2! α=β=1 v 1 Aα Aβ Aγ + · · · , 3! α=β=γ =1 and we conclude that Pr(#1 is unresolved negative): v v 1 v 1 1− p− Aα + Aα Aβ − Aα Aβ Aγ . . 2! α=β=1 3! 4. Pooling 33 N i=1 2 For the evaluation, we see first that, because ν1α = ν1α , then Aα = ν1α N (1 − τi νiα ) = ν1α (1 − τ1 ν1 ) i=1 (1 − τi νiα ), or N Aα = (1 − τ1 ) ν1α (1 − τi νiα ) .

In other words, with denoting expectation, τi = c/N ≡ p. The pair of sets {viα , τi } of known/unknown quantities, 0 or 1, completely specifies the setup. Let us develop the required derived quantities. , either {νiα = 0, i not in α} or {νiα = 1 but τi = 0 : i is in α but i is negative}. , if νiα = 1 and Q α = 1 for at least one α: i is resolved negative if Aiα ≡ Q α νiα = 1 for at least one α. This is equivalent to saying that v (1 − Aiα ) = 0. α=1 Hence, if Pi = 1 − v α=1 (1 − Aiα ), 32 Recomposing DNA then Pi = 1 if i is resolved negative .

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