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SeGraM

Damla Senol Cali, Konstantinos Kanellopoulos, Joël Lindegger, Zülal Bingöl, Gurpreet S. Kalsi, Ziyi Zuo, Can Fırtına, Meryem Banu Cavlak, Jeremie Kim, Nika Mansouri Ghiasi, Gagandeep Singh, Juan Gómez-Luna, Nour Almadhoun Alserr, Mohammed Alser, Sreenivas Subramoney, Can Alkan, Saugata Ghose, Onur Mutlu

202234 citationsDOI

Abstract

A critical step of genome sequence analysis is the mapping of sequenced DNA fragments (i.e., reads) collected from an individual to a known linear reference genome sequence (i.e., sequence-to-sequence mapping). Recent works replace the linear reference sequence with a graph-based representation of the reference genome, which captures the genetic variations and diversity across many individuals in a population. Mapping reads to the graph-based reference genome (i.e., sequence-to-graph mapping) results in notable quality improvements in genome analysis. Unfortunately, while sequence-to-sequence mapping is well studied with many available tools and accelerators, sequence-to-graph mapping is a more difficult computational problem, with a much smaller number of practical software tools currently available.

Topics & Concepts

Reference genomeComputer scienceSequence (biology)ScalabilityGraphAlignment-free sequence analysisSequence assemblyAlgorithmDNA sequencingSequence alignmentTheoretical computer scienceGeneticsBiologyGeneDatabasePeptide sequenceGene expressionTranscriptomeGenomics and Phylogenetic StudiesAlgorithms and Data CompressionGenomics and Chromatin Dynamics
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