25 papers · ranked by Valyu relevance
Laura K. Reed, Adam J. Kleinschmit, Vincent Buonaccorsi, Arthur G. Hunt + 6 more
'Arthur G. Hunt' 'Douglas Chalker' 'Jason Williams' 'Christopher J. Jones' 'Juan-Carlos Martinez-Cruzado' 'Anne Rosenwald' 'Surya Saha'] Genomics is an increasingly important part of biology research. However, educating undergraduates in genomics is not yet a standard part of life sciences curricula. We believe this…
Habiba Abdelhalim, Asude Berber, Mudassir Lodi, Rihi Jain + 22 more
Precision medicine has greatly aided in improving health outcomes using earlier diagnosis and better prognosis for chronic diseases. It makes use of clinical data associated with the patient as well as their multi-omics/genomic data to reach a conclusion regarding how a physician should proceed with a specific…
Stephanie Clare Roth
Genomic medicine is rapidly changing the future of medicine. Medical librarians need to understand this field of research and keep current with its latest advancements. Even if they are not directly involved in genomic medicine, librarians can play an integral role by helping health care consumers and practitioners who…
Kiara V. Whitley, Josie A. Tueller, K. Scott Weber
Since the completion of the Human Genome Project in 2003, genomic sequencing has become a prominent tool used by diverse disciplines in modern science. In the past 20 years, the cost of genomic sequencing has decreased exponentially, making it affordable and accessible. Bioinformatic and biological studies have…
Gabriel Dorado, Sergio Gálvez, Teresa E. Rosales, Víctor F. Vásquez + 1 more
'Pilar Hernández'] Recent developments have revolutionized the study of biomolecules. Among them are molecular markers, amplification and sequencing of nucleic acids. The latter is classified into three generations. The first allows to sequence small DNA fragments. The second one increases throughput, reducing…
Erman Ayday, Emiliano De Cristofaro, Jean‐Pierre Hubaux, Gene Tsudik
In recent years, Whole Genome Sequencing (WGS) evolved from a futuristic-sounding research project to an increasingly affordable technology for determining complete genome sequences of complex organisms, including humans. This prompts a wide range of revolutionary applications, as WGS promises to improve modern…
Stephen J O'Brien
Wide interest in species conservation is young. To many it began early in 1903 when Teddy Roosevelt and John Muir set up a camp under the Grizzly Giant in the Mariposa Grove of California's Yosemite Valley. Over three days they decided to broaden the US National Park footprint across the USA. Conservationists were…
Sara Ballouz, Alexander Dobin, Jesse Gillis
The use of the human reference genome has shaped methods and data across modern genomics. This has offered many benefits while creating a few constraints. In the following piece, we outline the history, properties, and pitfalls of the current human reference genome. In a few illustrative analyses, we focus on its use…
Daehwan Kim, Joseph Paggi, Steven L. Salzberg
Rapid advances in next-generation sequencing technologies have dramatically changed our ability to perform genome-scale analyses of human genomes. The human reference genome used for most genomic analyses represents only a small number of individuals, limiting its usefulness for genotyping. We designed a novel method…
Aaron David Goldman, Laura F. Landweber, W. Ford Doolittle
The genome is often described as the information repository of an organism. Whether millions or billions of letters of DNA, its transmission across generations confers the principal medium for inheritance of organismal traits. Several emerging areas of research demonstrate that this definition is an oversimplification.…
Mohammed Alser, Julien Eudine, Onur Mutlu
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 exponential growth of genomic sequencing data. We introduce the concept of…
Teddy Lazebnik, Liron Simon-Keren
Genome data are crucial in modern medicine, offering significant potential for diagnosis and treatment. Thanks to technological advancements, many millions of healthy and diseased genomes have already been sequenced; however, obtaining the most suitable data for a specific study, and specifically for validation…
Khalid Raza, Sabahuddin Ahmad
Next Generation Sequencing (NGS), a recently evolved technology, have served a lot in the research and development sector of our society. This novel approach is a newbie and has critical advantages over the traditional Capillary Electrophoresis (CE) based Sanger Sequencing. The advancement of NGS has led to numerous…
Marlena Szalata, Mikołaj Danielewski, Karolina Wielgus, Ryszard Słomski + 1 more
Title: Simple Summary A genome is an organism’s set of genetic material (DNA and, in viruses, RNA), and it contains all genes and non-coding sequences. It is well known that the structure of DNA was described by Watson and Crick, but the first studies were conducted a century earlier by Miescher, who described the…
Md Vasimuddin, Sanchit Misra, Srinivas Aluru
Rapid advances in next-generation sequencing technologies are improving the throughput and cost of sequencing at a rate significantly faster than the Moore’s law. This necessitates equivalent rate of acceleration of NGS secondary analysis that assembles reads into full genomes and identifies variants between genomes.…
Wei-Hsuan Chuang, Hsueh-Chien Cheng, Yu-Jung Chang, Pao-Yin Fu + 6 more
This paper introduces a novel genome assembly optimization tool named LOCLA, which stands for “Local Optimization for Chromosome-Level Assembly”. It identifies reads and contigs aligned locally with high quality on gap flanks or scaffold boundaries of draft assemblies for gap filling and scaffold connection. LOCLA…
Cristian Groza, Xun Chen, Alain Pacis, Marie-Michelle Simon + 5 more
Genetic variants, including mobile element insertions (MEIs), are known to impact the epigenome. We hypothesized that the use of a genome graph, which encapsulates genetic diversity, could reveal missing epigenomic signal. Given the contributions of mobile elements to the evolution of primate innate immunity, we tested…
Authors not listed
Molecular mechanisms governing initiation steps of the assembly of thousands of endogenous multi-protein complexes (EMCs) remain incompletely understood. Here, multiple lines of observations are reported reflecting the biological functions-aligned initiation sequence of hybrid assembly pathways (HAPs) of EMCs. HAPs…
Yuncan Ai, Hannan Ai, Fanmei Meng, Lei Zhao
How to compare whole genome sequences at large scale has not been achieved via conventional methods based on pair-wisely base-to-base comparison; nevertheless, no attention was paid to handle in-one-sitting a number of genomes crossing genetic category (chromosome, plasmid, and phage) with farther divergences (much…
Joseph Jaeger, Amanda Hellwig, Elizabeth Schiavoni, Bridget Brace-MacDonald + 5 more
Information about genomics is increasingly available to mainstream society, with more and more emphasis on using genomic information to make health care decisions. To determine how prepared people are to use this knowledge to make critical health-related decisions, we assessed the public’s level of genomic literacy and…
Han Fang, Yiyang Wu, Margaret Yoon, Laura T. Jiménez-Barrón + 4 more
This report includes the discovery and analysis of a pedigree with Prader–Willi Syndrome (PWS), hereditary hemochromatosis (HH), and dysautonomia-like symptoms. Nine members of the family participated in whole genome sequencing (WGS), which enabled a wide scope of variant calling from single-nucleotide polymorphisms to…
Authors not listed
In this report, we examine the extensive research landscape of CRISPR with an emphasis on CRISPR therapeutics and showcase our results from an in-depth analysis of the most up-to-date scientific information consisting of more than 53,000 publications encompassing academic journal articles and patents, spanning nearly…
Authors not listed
The rise of antibiotic resistance has necessitated the exploration of unconventional sources for novel antimicrobial agents. One emerging novel frontier is "de-extinct" molecules – bioactive peptides, antibiotics, and other bioactive agents reconstructed from ancient or extinct organisms – a groundbreaking convergence…
Authors not listed
RNA droplets assembled from co-transcriptionally folded nanostructures have recently emerged as a promising platform for constructing protocells and minimal synthetic cell models. In these systems, a custom-designed DNA template encodes an RNA nanostar, which is produced by transcription and self-assembles into…
Authors not listed
Large-scale de novo nucleic acid synthesis is a powerful tool enabling researchers to better understand and engineer biological systems. Fields ranging from genomics to nucleic acid therapeutics to synthetic biology make use of high-throughput experimental approaches requiring access to large pools or libraries of DNA…