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Estimation example. Input: Alignment. Model parameters from neutral sequence. Estimation example 2. HMM version. Different gene conservation patterns. Protein Coding Gene. ch10. Known non- coding gene: XIST. chX. RepA. Estimating.
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Estimation example • Input: • Alignment. • Model parameters from neutral sequence
Different gene conservation patterns Protein Coding Gene ch10 Known non-coding gene: XIST chX RepA
Estimating Decompose Q by “extracting” the stationary distribution: R: Neutral substitution pattern : Site specific forces Find a ML estimator for using the EM algorithm. Score:
Comparison Rate Score Unlikeliness Score
Proof of concept 43% vs 16% detection by vs.
A generalization: Conserved motif discovery Human GTACTAAGCTACTGTATGGAGGCT Mouse *****GAGC**********ATGC* x x Dog *****AGGT**********CGGC* x Bat *****AGCT**********AGAC* Find regions in the alignment whose substitution pattern is explained by the motif.
P53 Motif instance conservation P53 Novel non coding gene MDM2 M. Huarte, O. Zuk, M. Guttman