Context dependency of nucleotide probabilities and variants in human DNA.

ABSTRACT:

Background

Genomic DNA has been shaped by mutational processes through evolution. The cellular machinery for error correction and repair has left its marks in the nucleotide composition along with structural and functional constraints. Therefore, the probability of observing a base in a certain position in the human genome is highly context-dependent.

Results

Here we develop context-dependent nucleotide models. We first investigate models of nucleotides conditioned on sequence context. We develop a bidirectional Markov model that use an average of the probability from a Markov model applied to both strands of the sequence and thus depends on up to 14 bases to each side of the nucleotide. We show how the genome predictability varies across different types of genomic regions.

SUBMITTER: Liang Y 

PROVIDER: S-EPMC8802520 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature