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Genome wide association studies directly assay 10^6 single nucleotide polymorphisms (SNPs) across a study cohort. Probabilistic estimation of additional sites by genotype imputation can increase this set of variants by 10- to 40-fold. Even…

Quantitative Methods · Quantitative Biology 2013-11-19 Cameron Palmer , Itsik Pe'er

We study the primary DNA structure of four of the most completely sequenced human chromosomes (including chromosome 19 which is the most dense in coding), using Non-extensive Statistics. We show that the exponents governing the decay of the…

Genomics · Quantitative Biology 2009-11-11 Th. Oikonomou , A. Provata

A central problem in comparative genomics consists in computing a (dis-)similarity measure between two genomes, e.g. in order to construct a phylogeny. All the existing measures are defined on genomes without duplicates. However, we know…

Quantitative Methods · Quantitative Biology 2008-12-18 Sébastien Angibaud , Guillaume Fertin , Irena Rusu , Annelyse Thevenin , Stéphane Vialette

Genome-to-genome comparisons require designating anchor points, which are given by Maximum Exact Matches (MEMs) between their sequences. For large genomes this is a challenging problem and the performance of existing solutions, even in…

Data Structures and Algorithms · Computer Science 2018-05-24 Szymon Grabowski , Wojciech Bieniecki

Reference-guided DNA sequencing and alignment is an important process in computational molecular biology. The amount of DNA data grows very fast, and many new genomes are waiting to be sequenced while millions of private genomes need to be…

Sequential data is being generated at an unprecedented pace in various forms, including text and genomic data. This creates the need for efficient compression mechanisms to enable better storage, transmission and processing of such data. To…

Computation and Language · Computer Science 2018-11-21 Mohit Goyal , Kedar Tatwawadi , Shubham Chandak , Idoia Ochoa

Today's sequencing technology allows sequencing an individual genome within a few weeks for a fraction of the costs of the original Human Genome project. Genomics labs are faced with dozens of TB of data per week that have to be…

Databases · Computer Science 2009-09-15 Uwe Roehm , Jose Blakeley

In recent years, we have witnessed a dramatic data explosion in genomics, thanks to the improvement in sequencing technologies and the drastically decreasing costs. We are entering the era of millions of available genomes. Notably, each…

Other Quantitative Biology · Quantitative Biology 2018-03-28 Ka-Chun Wong

Searching for similar genomic sequences is an essential and fundamental step in biomedical research and an overwhelming majority of genomic analyses. State-of-the-art computational methods performing such comparisons fail to cope with the…

Data Structures and Algorithms · Computer Science 2024-07-11 Mohammed Alser , Julien Eudine , Onur Mutlu

We propose a new compression scheme for genomic data given as sequence fragments called reads. The scheme uses a reference genome at the decoder side only, freeing the encoder from the burdens of storing references and performing…

Information Theory · Computer Science 2023-02-10 Yotam Gershon , Yuval Cassuto

Composite DNA is a recent novel method to increase the information capacity of DNA-based data storage above the theoretical limit of 2 bits/symbol. In this method, every composite symbol does not store a single DNA nucleotide but a mixture…

Information Theory · Computer Science 2025-01-22 Tuan Thanh Nguyen , Chen Wang , Kui Cai , Yiwei Zhang , Zohar Yakhini

DNA has emerged as a promising alternative for long-term data storage due to its high capacity, durability, and low-energy potential. However, storing data in DNA presents several challenges. First, it requires complex and costly…

Other Quantitative Biology · Quantitative Biology 2025-11-20 Sara Al Sayyed , Aline Roumy , Thomas Maugey

Motivation: Second generation sequencing technology makes it feasible for many researches to obtain enough sequence reads to attempt the de novo assembly of higher eukaryotes (including mammals). De novo assembly not only provides a tool…

Genomics · Quantitative Biology 2010-08-17 Thomas C Conway , Andrew J Bromage

Each human genome is a 3 billion base pair set of encoding instructions. Decoding the genome using deep learning fundamentally differs from most tasks, as we do not know the full structure of the data and therefore cannot design…

Machine Learning · Computer Science 2016-05-24 Laura Deming , Sasha Targ , Nate Sauder , Diogo Almeida , Chun Jimmie Ye

When an individual's DNA is sequenced, sensitive medical information becomes available to the sequencing laboratory. A recently proposed way to hide an individual's genetic information is to mix in DNA samples of other individuals. We…

Information Theory · Computer Science 2024-11-05 Kayvon Mazooji , Roy Dong , Ilan Shomorony

It is known that the majority of the human genome consists of repeated sequences. Furthermore, it is believed that a significant part of the rest of the genome also originated from repeated sequences and has mutated to its current form. In…

Information Theory · Computer Science 2014-01-21 Farzad Farnoud , Moshe Schwartz , Jehoshua Bruck

The yearly global production of data is growing exponentially, outpacing the capacity of existing storage media, such as tape and disk, and surpassing our ability to store it. DNA storage - the representation of arbitrary information as…

Quantitative Methods · Quantitative Biology 2023-10-04 Thomas Heinis , Roman Sokolovskii , Jamie J. Alnasir

Scientists have been trying to identify all of the genes in the human genome since the initial draft of the genome was published in 2001. Over the intervening years, much progress has been made in identifying protein-coding genes, and the…

Data compression plays an important role to deal with high volumes of DNA sequences in the field of Bioinformatics. Again data compression techniques directly affect the alignment of DNA sequences. So the time needed to decompress a…

Computational Engineering, Finance, and Science · Computer Science 2012-11-13 Subhankar Roy , Sunirmal Khatua , Sudipta Roy , Samir K. Bandyopadhyay

Motivation: Next Generation Sequencing technologies revolutionized many fields in biology by enabling the fast and cheap sequencing of large amounts of genomic data. The ever increasing sequencing capacities enabled by current sequencing…

Genomics · Quantitative Biology 2012-07-24 Himanshu Asnani , Dinesh Bharadia , Mainak Chowdhury , Idoia Ochoa , Itai Sharon , Tsachy Weissman