arXiv subjects

Paolo Ribeca

Publications and source records attributed to Paolo Ribeca.

5 recordsLinked to original sources

arXiv2026

Simple sign epistasis and evolutionary detours in fitness landscapes

In epistatic fitness landscapes, the fitness effect of a mutation depends on the genetic background and may even switch between deleterious and beneficial depending on the presence of another mutation. Epistatic interactions may cause both mutations to change the sign of each other's fitness effects (reciprocal sign epistasis) or only one mutation to do so (simple sign epistasis). Both these forms of epistasis influence evolutionary trajectories. While reciprocal sign epistasis has been associated with multi-peaked landscapes and their ruggedness, the role and relative frequency of simple sign epistasis in fitness landscapes have not been systematically investigated. Here, we prove that the presence of simple sign epistasis is associated with evolutionary detours, i.e., indirect, longer fitness-increasing paths to fitness peaks that include back-mutations. We also show that in experimentally resolved, weakly epistatic landscapes, simple sign epistasis occurs much more frequently than reciprocal sign epistasis. This result is consistent with the theoretical predictions we derive for most landscape models, with the exception of the block model and of landscapes dominated by pairwise allelic incompatibilities, such as RNA stability landscapes. Our results suggest that detours represent a general feature of evolutionary trajectories in weakly epistatic landscapes.

q-bio.PE↗

arXiv2023

Scaling a Variant Calling Genomics Pipeline with FaaS

With the escalating complexity and volume of genomic data, the capacity of biology institutions' HPC faces limitations. While the Cloud presents a viable solution for short-term elasticity, its intricacies pose challenges for bioinformatics users. Alternatively, serverless computing allows for workload scalability with minimal developer burden. However, porting a scientific application to serverless is not a straightforward process. In this article, we present a Variant Calling genomics pipeline migrated from single-node HPC to a serverless architecture. We describe the inherent challenges of this approach and the engineering efforts required to achieve scalability. We contribute by open-sourcing the pipeline for future systems research and as a scalable user-friendly tool for the bioinformatics community.

cs.DC↗

arXiv2015

CARGO: Effective format-free compressed storage of genomic information

The recent super-exponential growth in the amount of sequencing data generated worldwide has put techniques for compressed storage into the focus. Most available solutions, however, are strictly tied to specific bioinformatics formats, sometimes inheriting from them suboptimal design choices; this hinders flexible and effective data sharing. Here we present CARGO (Compressed ARchiving for GenOmics), a high-level framework to automatically generate software systems optimized for the compressed storage of arbitrary types of large genomic data collections. Straightforward applications of our approach to FASTQ and SAM archives require a few lines of code, produce solutions that match and sometimes outperform specialized format-tailored compressors, and scale well to multi-TB datasets.

q-bio.GN↗

arXiv2008

Faster exact Markovian probability functions for motif occurrences: a DFA-only approach

Background: The computation of the statistical properties of motif occurrences has an obviously relevant practical application: for example, patterns that are significantly over- or under-represented in the genome are interesting candidates for biological roles. However, the problem is computationally hard; as a result, virtually all the existing pipelines use fast but approximate scoring functions, in spite of the fact that they have been shown to systematically produce incorrect results. A few interesting exact approaches are known, but they are very slow and hence not practical in the case of realistic sequences. Results: We give an exact solution, solely based on deterministic finite-state automata (DFAs), to the problem of finding not only the p-value, but the whole relevant part of the Markovian probability distribution function of a motif in a biological sequence. In particular, the time complexity of the algorithm in the most interesting regimes is far better than that of Nuel (2006), which was the fastest similar exact algorithm known to date; in many cases, even approximate methods are outperformed. Conclusions: DFAs are a standard tool of computer science for the study of patterns, but so far they have been sparingly used in the study of biological motifs. Previous works do propose algorithms involving automata, but there they are used respectively as a first step to build a Finite Markov Chain Imbedding (FMCI), or to write a generating function: whereas we only rely on the concept of DFA to perform the calculations. This innovative approach can realistically be used for exact statistical studies of very long genomes and protein sequences, as we illustrate with some examples on the scale of the human genome.

q-bio.GN↗

arXiv2005

Towards a fully automated computation of RG-functions for the 3-$d$ O(N) vector model: Parametrizing amplitudes

Within the framework of field-theoretical description of second-order phase transitions via the 3-dimensional O(N) vector model, accurate predictions for critical exponents can be obtained from (resummation of) the perturbative series of Renormalization-Group functions, which are in turn derived --following Parisi's approach-- from the expansions of appropriate field correlators evaluated at zero external momenta. Such a technique was fully exploited 30 years ago in two seminal works of Baker, Nickel, Green and Meiron, which lead to the knowledge of the $β$-function up to the 6-loop level; they succeeded in obtaining a precise numerical evaluation of all needed Feynman amplitudes in momentum space by lowering the dimensionalities of each integration with a cleverly arranged set of computational simplifications. In fact, extending this computation is not straightforward, due both to the factorial proliferation of relevant diagrams and the increasing dimensionality of their associated integrals; in any case, this task can be reasonably carried on only in the framework of an automated environment. On the road towards the creation of such an environment, we here show how a strategy closely inspired by that of Nickel and coworkers can be stated in algorithmic form, and successfully implemented on the computer. As an application, we plot the minimized distributions of residual integrations for the sets of diagrams needed to obtain RG-functions to the full 7-loop level; they represent a good evaluation of the computational effort which will be required to improve the currently available estimates of critical exponents.

cond-mat.stat-mech↗