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Recent emergence of next-generation DNA sequencing technology has enabled acquisition of genetic information at unprecedented scales. In order to determine the genetic blueprint of an organism, sequencing platforms typically employ…

Genomics · Quantitative Biology 2015-06-19 Xiaohu Shen , Manohar Shamaiah , Haris Vikalo

A major challenge in next-generation genome sequencing (NGS) is to assemble massive overlapping short reads that are randomly sampled from DNA fragments. To complete assembling, one needs to finish a fundamental task in many leading…

Genomics · Quantitative Biology 2015-05-26 Yang Li , XifengYan

We now need more than ever to make genome analysis more intelligent. We need to read, analyze, and interpret our genomes not only quickly, but also accurately and efficiently enough to scale the analysis to population level. There currently…

The cost of DNA sequencing has dropped exponentially over the past decade, making genomic data accessible to a growing number of scientists. In bioinformatics, localization of short DNA sequences (reads) within large genomic sequences is…

Genomics · Quantitative Biology 2021-06-16 Robin Kobus , André Müller , Daniel Jünger , Christian Hundt , Bertil Schmidt

As the global need for large-scale data storage is rising exponentially, existing storage technologies are approaching their theoretical and functional limits in terms of density and energy consumption, making DNA based storage a potential…

Emerging Technologies · Computer Science 2021-10-12 Yotam Nahum , Eyar Ben-Tolila , Leon Anavy

Computational complexity is a key limitation of genomic analyses. Thus, over the last 30 years, researchers have proposed numerous fast heuristic methods that provide computational relief. Comparing genomic sequences is one of the most…

Adequate read filtering is critical when processing high-throughput data in marker-gene-based studies. Sequencing errors can cause the mis-clustering of otherwise similar reads, artificially increasing the number of retrieved Operational…

Quantitative Methods · Quantitative Biology 2015-06-02 Fernando Puente-Sánchez , Jacobo Aguirre , Víctor Parro

Although the expenses associated with DNA sequencing have been rapidly decreasing, the current cost of sequencing information stands at roughly $120/GB, which is dramatically more expensive than reading from existing archival storage…

Discrete Mathematics · Computer Science 2023-11-30 Daniella Bar-Lev , Omer Sabary , Ryan Gabrys , Eitan Yaakobi

A genome read data set can be quickly and efficiently remapped from one reference to another similar reference (e.g., between two reference versions or two similar species) using a variety of tools, e.g., the commonly-used CrossMap tool.…

Genomics · Quantitative Biology 2023-11-21 Jeremie S. Kim , Can Firtina , Meryem Banu Cavlak , Damla Senol Cali , Can Alkan , Onur Mutlu

We live in a period where bio-informatics is rapidly expanding, a significant quantity of genomic data has been produced as a result of the advancement of high-throughput genome sequencing technology, raising concerns about the costs…

Quantitative Methods · Quantitative Biology 2023-03-10 Mehedi Hasan Sarkar , Adnan Ferdous Ashrafi

Current computational methods for exon-intron structure prediction from a cluster of transcript (EST, mRNA) data do not exhibit the time and space efficiency necessary to process large clusters of over than 20,000 ESTs and genes longer than…

Genomics · Quantitative Biology 2010-05-11 Paola Bonizzoni , Gianluca Della Vedova , Yuri Pirola , Raffaella Rizzi

As AI workloads drive increasing memory requirements, domain-specific accelerators need higher-density on-chip memory beyond what current SRAM scaling trends can provide. Simultaneously, the vast amounts of short-lived data in these…

DNA sequence alignment is an important workload in computational genomics. Reference-guided DNA assembly involves aligning many read sequences against candidate locations in a long reference genome. To reduce the computational load of this…

Hardware Architecture · Computer Science 2024-01-23 Courtney Golden , Dan Ilan , Nicholas Cebry , Christopher Batten

The two most common data-structures for genome indexing, FM-indices and hash-tables, exhibit a fundamental trade-off between memory footprint and performance. We present Ranger, a new indexing technique for nucleotide sequences that is both…

Data Structures and Algorithms · Computer Science 2023-08-09 Alon Rashelbach , Ori Rottensterich , Mark Silberstien

Motivation: Seed filtering is critical in DNA read mapping, a process where billions of DNA fragments (reads) sampled from a donor are mapped onto a reference genome to identify genomic variants of the donor. Read mappers 1) quickly…

We present the GeneScore, a concept of feature reduction for Machine Learning analysis of biomedical data. Using expert knowledge, the GeneScore integrates different molecular data types into a single score. We show that the GeneScore is…

Genomics · Quantitative Biology 2021-01-15 Alexander Denker , Anastasia Steshina , Theresa Grooss , Frank Ueckert , Sylvia Nürnberg

DNA read mapping is a computationally expensive bioinformatics task, required for genome assembly and consensus polishing. It requires to find the best-fitting location for each DNA read on a long reference sequence. A novel resistive…

Genomics · Quantitative Biology 2019-01-29 Roman Kaplan , Leonid Yavits , Ran Ginosar

Motivation: Despite significant advances in Third-Generation Sequencing (TGS) technologies, Next-Generation Sequencing (NGS) technologies remain dominant in the current sequencing market. This is due to the lower error rates and richer…

Information Theory · Computer Science 2023-04-04 Jia Wang , Yi Niu , Tianyi Xu , Mingming Ma , Dahua Gao , Guangming Shi

Raw signal genome analysis (RSGA) has emerged as a promising approach to enable real-time genome analysis by directly analyzing raw electrical signals. However, rapid advancements in sequencing technologies make it increasingly difficult…

The task of understanding and interpreting the complex information encoded within genomic sequences remains a grand challenge in biological research and clinical applications. In this context, recent advancements in large language model…

Genomics · Quantitative Biology 2024-09-25 Qihang Zhao , Chi Zhang , Weixiong Zhang