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Motivation: Protein-to-genome alignment is critical to annotating genes in non-model organisms. While there are a few tools for this purpose, all of them were developed over ten years ago and did not incorporate the latest advances in…

Genomics · Quantitative Biology 2022-12-29 Heng Li

Genome sequencing is the basis for many modern biological and medicinal studies. With recent technological advances, metagenomics has become a problem of interest. This problem entails the analysis and reconstruction of multiple DNA…

Probability · Mathematics 2022-01-14 Marlee Herring

The rapidly changing landscape of sequencing technologies brings new opportunities to genomics research. Longer sequence reads and higher sequence throughput coupled with ever-improving base accuracy and decreasing per-base cost is now…

Genomics · Quantitative Biology 2022-09-20 René L. Warren

Feature embedding methods have been proposed in literature to represent sequences as numeric vectors to be used in some bioinformatics investigations, such as family classification and protein structure prediction. Recent theoretical…

AI alignment research is the field of study dedicated to ensuring that artificial intelligence (AI) benefits humans. As machine intelligence gets more advanced, this research is becoming increasingly important. Researchers in the field…

Computers and Society · Computer Science 2022-06-08 Jan H. Kirchner , Logan Smith , Jacques Thibodeau , Kyle McDonell , Laria Reynolds

Genomic data sets are growing dramatically as the cost of sequencing continues to decline and small sequencing devices become available. Enormous community databases store and share this data with the research community, but some of these…

Artificial and biological systems may evolve similar computational solutions despite fundamental differences in architecture and learning mechanisms -- a form of convergent evolution. We demonstrate this phenomenon through large-scale…

Neurons and Cognition · Quantitative Biology 2025-07-04 Guobin Shen , Dongcheng Zhao , Yiting Dong , Qian Zhang , Yi Zeng

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…

While most current high-throughput DNA sequencing technologies generate short reads with low error rates, emerging sequencing technologies generate long reads with high error rates. A basic question of interest is the tradeoff between read…

Information Theory · Computer Science 2015-01-27 Ilan Shomorony , Thomas Courtade , David Tse

DNA sequencing is revolutionising the field of medicine. DNA sequencers, the machines which perform DNA sequencing, have evolved from the size of a fridge to that of a mobile phone over the last two decades. The cost of sequencing a human…

Genomics · Quantitative Biology 2021-01-14 Hasindu Gamaarachchi

Alignment-based sequence similarity searches, while accurate for some type of sequences, can produce incorrect results when used on more divergent but functionally related sequences that have undergone the sequence rearrangements observed…

Genomics · Quantitative Biology 2015-01-21 Ivan Borozan , Stuart Watt , Vincent Ferretti

Large Language Models (LLMs) exhibit remarkably powerful capabilities. One of the crucial factors to achieve success is aligning the LLM's output with human preferences. This alignment process often requires only a small amount of data to…

RNA sequencing (RNA-seq) enables characterization and quantification of individual transcriptomes as well as detection of patterns of allelic expression and alternative splicing. Current RNA-seq protocols depend on high-throughput…

Genomics · Quantitative Biology 2015-06-19 Hyunghoon Cho , Joe Davis , Xin Li , Kevin S. Smith , Alexis Battle , Stephen B. Montgomery

The prevalent technique for DNA sequencing consists of two main steps: shotgun sequencing, where many randomly located fragments, called reads, are extracted from the overall sequence, followed by an assembly algorithm that aims to…

Genomics · Quantitative Biology 2016-01-28 Shirshendu Ganguly , Elchanan Mossel , Miklos Z. Racz

New technologies have enabled the investigation of biology and human health at an unprecedented scale and in multiple dimensions. These dimensions include a myriad of properties describing genome, epigenome, transcriptome, microbiome,…

Quantitative Methods · Quantitative Biology 2018-10-22 Marinka Zitnik , Francis Nguyen , Bo Wang , Jure Leskovec , Anna Goldenberg , Michael M. Hoffman

Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases. A key step is calling an individual's genotype from the multiple aligned short read…

Applications · Statistics 2012-06-29 Baiyu Zhou , Alice S. Whittemore

In recent years, machine learning has seen an increasing presencein a large variety of fields, especially in health care and bioinformatics.More specifically, the field where machine learning algorithms have found most applications is…

Neural and Evolutionary Computing · Computer Science 2020-08-21 Mekaal Swerhun , Jasmine Foley , Brandon Massop , Vijay Mago

During the course of evolution, an organism's genome can undergo changes that affect the large-scale structure of the genome. These changes include gene gain, loss, duplication, chromosome fusion, fission, and rearrangement. When gene gain…

Genomics · Quantitative Biology 2012-07-31 Birte Kehr , Knut Reinert , Aaron E. Darling

Although DNA foundation models have advanced the understanding of genomes, they still face significant challenges in the limited scale and diversity of genomic data. This limitation starkly contrasts with the success of natural language…

Genomics · Quantitative Biology 2024-02-14 Huixin Zhan , Ying Nian Wu , Zijun Zhang

In biological research machine learning algorithms are part of nearly every analytical process. They are used to identify new insights into biological phenomena, interpret data, provide molecular diagnosis for diseases and develop…