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DeBlasio, D.

Publications and source records attributed to DeBlasio, D..

2 recordsLinked to original sources

Automatically eliminating errors induced by suboptimal parameter choices in transcript assembly

Computational tools used for genomic analyses are becoming increasingly sophisticated and complex. While these applications often provide more accurate results than their predecessors, a new problem is emerging in that these pieces of software have a large number of tunable parameters. Choosing the wrong parameter values for an application may lead to significant results being overlooked or false results being reported. We take some first steps towards generating a truly automated genomic analysis pipeline by developing a method for automatically choosing input-specific parameter values for reference-based transcript assembly. We extend the parameter advising framework, first developed for multiple sequence alignment, to optimize parameter choices for the Scallop transcript assembler. In doing so, we provide the first method for finding advisor sets for applications with large numbers of tunable parameters. By choosing parameter values for each input, the area under the curve (AUC) when comparing assembled transcripts to a reference transcriptome is increased by 28.9% over using only the default parameter choices on 1595 RNA-Seq samples in the Sequence Read Archive. This approach is general, and when applied to StringTie it increases AUC by 13.1% on a set of 65 RNA-Seq experiments from ENCODE. Parameter advisors for both Scallop and StringTie are available on Github1.

bioinformatics

Asymptotically optimal minimizers schemes

MotivationThe minimizers technique is a method to sample k-mers that is used in many bioinformatics software to reduce computation, memory usage and run time. The number of applications using minimizers keeps on growing steadily. Despite its many uses, the theoretical understanding of minimizers is still very limited. In many applications, selecting as few k-mers as possible (i.e. having a low density) is beneficial. The density is highly dependent on the choice of the order on the k-mers. Different applications use different orders, but none of these orders are optimal. A better understanding of minimizers schemes, and the related local and forward schemes, will allow designing schemes with lower density, and thereby making existing and future bioinformatics tools even more efficient.\n\nResultsFrom the analysis of the asymptotic behavior of minimizers, forward and local schemes, we show that the previously believed lower bound on minimizers schemes does not hold, and that schemes with density lower than thought possible actually exist. The proof is constructive and leads to an efficient algorithm to compare k-mers. These orders are the first known orders that are asymptotically optimal. Additionally, we give improved bounds on the density achievable by the 3 type of schemes.\n\nContactgmarcais@cs.cmu.edu ckingsf@cs.cmu.edu

bioinformatics