Search bioRxiv⌕ Search

Biology subjects

Dayton, J. B.

Publications and source records attributed to Dayton, J. B..

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↗

Classifying cancer genome aberrations by their mutually exclusive effects on transcription

BackgroundMalignant tumors are typically caused by a conglomeration of genomic aberrations--including point mutations, small insertions, small deletions, and large copy-number variations. In some cases, specific chemotherapies and targeted drug treatments are effective against tumors that harbor certain genomic aberrations. However, predictive aberrations (biomarkers) have not been identified for many tumors. One way to address this problem is to examine the downstream, transcriptional effects of genomic aberrations and to identify characteristic patterns. Even though two tumors harbor different genomic aberrations, the transcriptional effects of those aberrations may be similar. These patterns could be used to inform treatment choices.\n\nResultsWe hypothesized that by grouping genomic aberrations according to their downstream transcriptional effects, we could identify drug-repurposing candidates that coincide with prior knowledge. To evaluate this hypothesis, we developed a computational pipeline that uses supervised machine learning to identify similarities among mutually exclusive genomic aberrations based on their transcriptional effects. We used data from 9300 tumors across 25 cancer types from The Cancer Genome Atlas to evaluate our approach. Our pipeline recapitulates known relationships in cancer pathways, and it identifies gene pairs known to predict responses to the same treatments.\n\nConclusionWe show that transcriptional data offer promise as a way to group genomic aberrations according to their downstream effects, and these groupings recapitulate known relationships. Our approach shows potential to help pharmacologists and clinical trialists narrow the search space for candidate gene/drug associations, including for rare mutations, and for identifying potential drug-repurposing opportunities.

genomics↗