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Biology subjects

Tatlow, P.

Publications and source records attributed to Tatlow, P..

2 recordsLinked to original sources

Coordinate-based mapping of tabular data enables fast and scalable queries

MotivationBiologists commonly store data in tabular form with observations as rows, attributes as columns, and measurements as values. Due to advances in high-throughput technologies, the sizes of tabular datasets are increasing. Some datasets contain millions of rows or columns. To work effectively with such data, researchers must be able to efficiently extract subsets of the data (using filters to select specific rows and retrieving specific columns). However, existing methodologies for querying tabular data do not scale adequately to large datasets or require specialized tools for processing. We sought a methodology that would overcome these challenges and that could be applied to an existing, text-based format. ResultsIn a systematic benchmark, we tested 10 techniques for querying simulated, tabular datasets. These techniques included a delimiter-splitting method, the Python pandas module, regular expressions, object serialization, the awk utility, and string-based indexing. We found that storing the data in fixed-width formats provided excellent performance for extracting data subsets. Because columns have the same width on every row, we could pre-calculate column and row coordinates and quickly extract relevant data from the files. Memory mapping led to additional performance gains. A limitation of fixed-width files is the increased storage requirement of buffer characters. Compression algorithms help to mitigate this limitation at a cost of reduced query speeds. Lastly, we used this methodology to transpose tabular files that were hundreds of gigabytes in size, without creating temporary files. We propose coordinate-based, fixed-width storage as a fast, scalable methodology for querying tabular biological data. Contactstephen_piccolo@byu.edu

bioinformatics↗

Combined analysis of genome sequencing and RNA-motifs reveals novel damaging non-coding mutations in human tumors

A major challenge in cancer research is to determine the biological and clinical significance of somatic mutations in non-coding regions. This has been studied in terms of recurrence, functional impact, and association to individual regulatory sites, but the combinatorial contribution of mutations to common RNA regulatory motifs has not been explored. We developed a new method, MIRA, to perform the first comprehensive study of significantly mutated regions (SMRs) affecting binding sites for RNA-binding proteins (RBPs) in cancer. Extracting signals related to RNA-related selection processes and using RNA sequencing data from the same samples we identified alterations in RNA expression and splicing linked to mutations on RBP binding sites. We found SRSF10 and MBNL1 motifs in introns, HNRPLL motifs at 5 UTRs, as well as 5 and 3 splice-site motifs, among others, with specific mutational patterns that disrupt the motif and impact RNA processing. MIRA facilitates the integrative analysis of multiple genome sites that operate collectively through common RBPs and can aid in the interpretation of non-coding variants in cancer. MIRA is available at https://github.com/comprna/mira.

cancer biology↗