The reconstruction of the haplotype pair for each chromosome is a hot topic in Bioinformatics and Genome Analysis. In Haplotype Assembly (HA), all heterozygous Single Nucleotide Polymorphisms (SNPs) have to be assigned to exactly one of the two chromosomes. In this work, we outline the state-of-the-art on HA approaches and present an in-depth analysis of the computational performance of GenHap, a recent method based on Genetic Algorithms. GenHap was designed to tackle the computational complexity of the HA problem by means of a divide-et-impera strategy that effectively leverages multi-core architectures. In order to evaluate GenHap’s performance, we generated different instances of synthetic (yet realistic) data exploiting empirical error models of four different sequencing platforms (namely, Illumina NovaSeq, Roche/454, PacBio RS II and Oxford Nanopore Technologies MinION). Our results show that the processing time generally decreases along with the read length, involving a lower number of sub-problems to be distributed on multiple cores.

(2019). High Performance Computing for Haplotyping: Models and Platforms . Retrieved from http://hdl.handle.net/10446/136040

High Performance Computing for Haplotyping: Models and Platforms

Tangherloni, Andrea;Cazzaniga, Paolo;
2019-01-01

Abstract

The reconstruction of the haplotype pair for each chromosome is a hot topic in Bioinformatics and Genome Analysis. In Haplotype Assembly (HA), all heterozygous Single Nucleotide Polymorphisms (SNPs) have to be assigned to exactly one of the two chromosomes. In this work, we outline the state-of-the-art on HA approaches and present an in-depth analysis of the computational performance of GenHap, a recent method based on Genetic Algorithms. GenHap was designed to tackle the computational complexity of the HA problem by means of a divide-et-impera strategy that effectively leverages multi-core architectures. In order to evaluate GenHap’s performance, we generated different instances of synthetic (yet realistic) data exploiting empirical error models of four different sequencing platforms (namely, Illumina NovaSeq, Roche/454, PacBio RS II and Oxford Nanopore Technologies MinION). Our results show that the processing time generally decreases along with the read length, involving a lower number of sub-problems to be distributed on multiple cores.
2019
Inglese
Euro-Par 2018: Parallel Processing Workshops
Mencagli, Gabriele; Heras, Dora B.; Cardellini, Valeria; Casalicchio, Emiliano; Jeannot, Emmanuel; Wolf, Felix; Salis, Antonio; Schifanella, Claudio; Manumachum, Ravi Reddy; Beccutti, Marco; Antonelli, Laura; Garcia Sanchez, José Daniel; Scott, Stephen L.
978-3-030-10548-8
11339
650
661
cartaceo
online
Switzerland
Cham
Springer Nature
esperti anonimi
Euro-Par 2018: 24th International European Conference on Parallel and Distributed Computing, Turin, Italy, 27-28 August 2018
24th
Turin (Italy)
27-28 August 2018
internazionale
contributo
Settore INF/01 - Informatica
Future-generation sequencing; Genome Analysis; Haplotype Assembly; High Performance Computing; Master-Slave paradigm; Theoretical Computer Science
Pubblicato first online 31-12-2018 testo scaricabile alla pagina https://link.springer.com/chapter/10.1007/978-3-030-10549-5_51
info:eu-repo/semantics/conferenceObject
9
Tangherloni, Andrea; Rundo, Leonardo; Spolaor, Simone; Nobile, Marco S.; Merelli, Ivan; Besozzi, Daniela; Mauri, Giancarlo; Cazzaniga, Paolo; Liò, Pie...espandi
1.4 Contributi in atti di convegno - Contributions in conference proceedings::1.4.01 Contributi in atti di convegno - Conference presentations
reserved
Non definito
273
(2019). High Performance Computing for Haplotyping: Models and Platforms . Retrieved from http://hdl.handle.net/10446/136040
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