Application of Markov Structure of Genomes to Outlier Identification and Read Classification

In this paper we apply the structure of genomes as second-order Markov processes specified by the distributions of successive triplets of bases to two bioinformatics problems: identification of outliers in genome databases and read classification in metagenomics, using real coronavirus and adenovirus data.

Measuring Quality of DNA Sequence Data via Degradation

We propose and apply a novel paradigm for characterization of genome data quality, which quantifies the effects of intentional degradation of quality. The rationale is that the higher the initial quality, the more fragile the genome and the greater the effects of degradation. We demonstrate that this phenomenon is ubiquitous, and that quantified measures of degradation can be used for multiple purposes. We focus on identifying outliers that may be problematic with respect to data quality, but might also be true anomalies or even attempts to subvert the database.

Specified Certainty Classification, with Application to Read Classification for Reference-Guided Metagenomic Assembly

Specified Certainty Classification (SCC) is a new paradigm for employing classifiers whose outputs carry uncertainties, typically in the form of Bayesian posterior probabilities. By allowing the classifier output to be less precise than one of a set of atomic decisions, SCC allows all decisions to achieve a specified level of certainty, as well as provides insights into classifier behavior by examining all decisions that are possible. Our primary illustration is read classification for reference-guided genome assembly, but we demonstrate the breadth of SCC by also analyzing COVID-19 vaccination data.