Article

Systematic Discovery of Conservation States for Single-Nucleotide Annotation of the Human Genome

2018-02-08

Abstract excerpt

Comparative genomics sequence data is an important source of information for interpreting genomes. Genome-wide annotations based on this data have largely focused on univariate scores or binary calls of evolutionary constraint. Here we present a complementary whole genome annotation approach, ConsHMM, which applies a multivariate hidden Markov model to learn de novo different ‘conservation states’ based on the co...

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Literature Corpus work: b7e74adc-dc68-5b64-87f1-b5f48b18995b
DOI: 10.1101/262097

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