New algorithms for accurate and efficient de novo genome assembly from long DNA sequencing reads.

Building de novo genome assemblies for complex genomes is possible thanks to long-read DNA sequencing technologies. However, maximizing the quality of assemblies based on long reads is a challenging task that requires the development of specialized data analysis techniques. We present new algorithms for assembling long DNA sequencing reads from haploid and diploid organisms. The assembly algorithm builds an undirected graph with two vertices for each read based on minimizers selected by a hash function derived from the k-mer distribution. Statistics collected during the graph construction are used as features to build layout paths by selecting edges, ranked by a likelihood function. For diploid samples, we integrated a reimplementation of the ReFHap algorithm to perform molecular phasing. We ran the implemented algorithms on PacBio HiFi and Nanopore sequencing data taken from haploid and diploid samples of different species. Our algorithms showed competitive accuracy and computational efficiency, compared with other currently used software. We expect that this new development will be useful for researchers building genome assemblies for different species.

ProFeatX: A parallelized protein feature extraction suite for machine learning.

Machine learning algorithms have been successfully applied in proteomics, genomics and transcriptomics. and have helped the biological community to answer complex questions. However, most machine learning methods require lots of data, with every data point having the same vector size. The biological sequence data, such as proteins, are amino acid sequences of variable length, which makes it essential to extract a definite number of features from all the proteins for them to be used as input into machine learning models. There are numerous methods to achieve this, but only several tools let researchers encode their proteins using multiple schemes without having to use different programs or, in many cases, code these algorithms themselves, or even come up with new algorithms. In this work, we created ProFeatX, a tool that contains 50 encodings to extract protein features in an efficient and fast way supporting desktop as well as high-performance computing environment. It can also encode concatenated features for protein-protein interactions. The tool has an easy-to-use web interface, allowing non-experts to use feature extraction techniques, as well as a stand-alone version for advanced users. ProFeatX is implemented in C++ and available on GitHub at https://github.com/usubioinfo/profeatx. The web server is available at http://bioinfo.usu.edu/profeatx/.