Researchers used artificial intelligence in large genomics studies to fill in gaps in patient information and improve predictions, but new research uncovers false positives and misleading correlations.

The guidance describes how firms can voluntarily engage with the FDA before marketing food from genome-edited plants.

Lithuania-based Genome has launched SEPA Instant Transfers,...

Clinical trials for genome editing of the human germline – adding, removing, or replacing DNA base pairs in gametes or early embryos – could be permitted in the future, but only for serious conditions under stringent oversight, says a new report from the National Academy of Sciences and the National Academy of Medicine.

An international, multidisciplinary organizing committee has been appointed to plan the Second International Summit on Human Genome Editing, which will take place Nov. 27-29 in Hong Kong.

On the eve of the Second International Summit on Human Genome Editing, we were informed of the birth of twins in China whose embryonic genomes had been edited.

Carrie Lam, Hong Kong’s chief executive, welcomed hundreds of participants from around the world to the Second International Summit on Human Genome Editing, which began today.

In December 2015, the U.S. National Academy of Sciences and U.S. National Academy of Medicine, the Royal Society of the United Kingdom, and the Chinese Academy of Sciences hosted an international summit in Washington, D.C., to discuss scientific, ethical, and governance issues associated with human genome editing.

We thank the organizing committee of the Second International Summit on Human Genome Editing, held this week in Hong Kong, for planning an important and timely conference on a rapidly advancing area of science and medicine.

A new publication from the U.S. National Academies of Sciences, Engineering, and Medicine, provides a brief summary of presentations and discussions at the Second International Summit on Human Genome Editing, held in Hong Kong on Nov. 27-29, 2018.

A commentary published in Nature calls for a moratorium on clinical uses of heritable human genome editing and the establishment of an international governance framework.

An international commission has been convened by the U.S. National Academy of Medicine, the U.S. National Academy of Sciences, and the Royal Society of the U.K., with the participation of science and medical academies around the world, to develop a framework for scientists, clinicians, and regulatory authorities to consider when assessing potential clinical applications of human germline genome editing.

Last week, the International Commission on the Clinical Use of Human Germline Genome Editing held its first public meeting at the National Academy of Sciences building in Washington, D.C.

The International Commission on the Clinical Use of Human Germline Genome Editing is tasked with identifying the scientific, medical, and ethical requirements to consider when assessing potential clinical applications of human germline genome editing — if society concludes that heritable human genome editing applications are acceptable.

We recently launched a new website intended to highlight the science underlying questions that our research shows Americans have about current issues.

It has been a little over a year since the Second International Summit on Human Genome Editing in Hong Kong, where scientist He Jiankui (pictured above) announced the birth of twins whose healthy embryonic genomes had been edited to confer resistance to HIV.

Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably without introducing undesired changes — a criterion that has not yet been met by any genome editing technology, says a new report by an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.’s Royal Society.

What Can Lobsters, Clams, and Rockfish Tell Us About Human Aging? Some species of rockfish only live to age 7. Others live over 200 years while maintaining the necessary functions to find food, mate, resist disease, and evade predators.

Two new companion reports from a World Health Organization expert panel provide recommendations to the scientific community on the use of human genome editing. The panel’s work was informed by a 2020 report written by an international commission under the auspices of NAS, NAM, and the U.K.’s Royal Society.

A multidisciplinary committee representing 11 nations will plan the Third International Summit on Human Genome Editing, to be held in London March 7-9, 2022. The NAS and NAM join other international partners in organizing the summit, which will build upon previous events held in Washington, D.C. and Hong Kong.

Registration is now open for the Third International Summit on Human Genome Editing, to be held March 6-8, 2023, in London. The three-day summit is being organized by the Royal Society and U.K. Academy of Medical Sciences, the U.S. National Academy of Sciences and National Academy of Medicine, and the World Academy of Sciences.

The final agenda is now available for the Third International Summit on Human Genome Editing, to be held March 6-8 in London and virtually. The National Academy of Sciences and National Academy of Medicine are among the international partners hosting the summit.

EPFL scientists have carried out a genomic and evolutionary study of a large and enigmatic family of human proteins, to demonstrate that it is responsible for harnessing the millions of transposable elements in the human genome. The work reveals the largely species-specific gene-regulatory networks that impact all of human biology, in both health and disease.

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In-depth guide to genotyping complex genomes By their very nature complex genomes are complex to analyse. This new ebook looks at different ways of tacklin

In-depth guide to genotyping complex genomes By their very nature complex genomes are complex to analyse. This new ebook looks at different ways of tacklin

TORONTO, ON — Researchers from the University of Toronto and SickKids Research Institute announced today that they have successfully mapped the genes in the fungus that causes Dutch Elm Disease. The researchers believe this is the first time the 30 million DNA letters for the fungus Ophiostoma ulmi have been mapped. The findings, published in […]

NTT DATA, the IT services provider and industry consultancy, has announced the end of a project that used quantum computing to optimise genome assembly processes. This is claimed to be a milestone in the use of this technology in the Healthcare and Life Sciences industries.

For the past decade, scientists have relied almost exclusively on CRISPR-Cas systems for genome editing. Now, a smaller but equally efficient nuclease is here to compete. 

In celebration of World Oceans Day, BioQuest announced it has “officially completed the draft reference genome of the Grooved Brain Coral, marking the first-time whole genome sequencing of a coral reef has been accomplished in the Caribbean by the Caribbean.” A spokesperson said, “This groundbreaking work was conducted locally in Bermuda in collaboration with the […]

Linn Fagerberg
Feb 1, 2014; 13:397-406
Research

Nov. 11, 2024 — A team of researchers used the Frontier supercomputer at the Department of Energy’s Oak Ridge National Laboratory and a new methodology for conducting a genome-wide association […]

The post ORNL’s Frontier Powers KAUST-Led Genome Study for Gordon Bell Prize Nomination appeared first on HPCwire.

Scientists have created "a form of information immortality" meant to instruct future species on how to recreate humans. But who, or what, will find it?

Colossal Biosciences reports it extracted DNA and RNA from the Tasmanian tiger specimen, a key step forward in its effort to create a modern proxy of the extinct species. Other scientists are calling for data to back up the claim

CRISPR–Cas9 has revolutionized gene editing for traditional and nontraditional model organisms alike. This tool has opened the door to new mechanistic studies of basic mosquito biology as well as the development of novel vector control strategies based on CRISPR–Cas9, including gene drives that spread genetic elements in the population. Although the promise of the specificity, flexibility, and ease of deployment CRISPR is real, its implementation still requires empirical optimization for each new species of interest, as well as to each genomic target within a given species. Here, we provide an overview of designing and testing single-guide RNAs for the use of CRISPR-based gene editing tools.

The South American lungfish has a whopping 180 gigabases of DNA in each cell, compared with 6 gigabases in human cells

Colossal, a US firm that is aiming to revive lost species such as the woolly mammoth, says it now has a near-complete genome of the extinct thylacine

A genetic study of nearly 2700 individuals has revealed the ancestry of Indian people, and gets scientists closer to reconstructing the genomes of ancient Neanderthals

Analysis of DNA from a Neanderthal fossil found in a French cave indicates that it belonged to a group that was isolated for more than 50,000 years

Title: Ancient Genome Appears to Have Links to Modern Humans
Category: Health News
Created: 8/30/2012 4:05:00 PM
Last Editorial Review: 8/31/2012 12:00:00 AM

Asgard archaea are of great interest as the progenitors of Eukaryotes, but little is known about the mobile genetic elements (MGEs) that may shape their ongoing evolution. Here, we describe MGEs that replicate in Atabeyarchaeia, a wetland Asgard archaea lineage represented by two complete genomes. We used soil depth–resolved population metagenomic data sets to track 18 MGEs for which genome structures were defined and precise chromosome integration sites could be identified for confident host linkage. Additionally, we identified a complete 20.67 kbp circular plasmid and two family-level groups of viruses linked to Atabeyarchaeia, via CRISPR spacer targeting. Closely related 40 kbp viruses possess a hypervariable genomic region encoding combinations of specific genes for small cysteine-rich proteins structurally similar to restriction-homing endonucleases. One 10.9 kbp integrative conjugative element (ICE) integrates genomically into the Atabeyarchaeum deiterrae-1 chromosome and has a 2.5 kbp circularizable element integrated within it. The 10.9 kbp ICE encodes an expressed Type IIG restriction-modification system with a sequence specificity matching an active methylation motif identified by Pacific Biosciences (PacBio) high-accuracy long-read (HiFi) metagenomic sequencing. Restriction-modification of Atabeyarchaeia differs from that of another coexisting Asgard archaea, Freyarchaeia, which has few identified MGEs but possesses diverse defense mechanisms, including DISARM and Hachiman, not found in Atabeyarchaeia. Overall, defense systems and methylation mechanisms of Asgard archaea likely modulate their interactions with MGEs, and integration/excision and copy number variation of MGEs in turn enable host genetic versatility.

Understanding the evolution of chromatin conformation among species is fundamental to elucidate the architecture and plasticity of genomes. Nonrandom interactions of linearly distant loci regulate gene function in species-specific patterns, affecting genome function, evolution, and, ultimately, speciation. Yet, data from nonmodel organisms are scarce. To capture the macroevolutionary diversity of vertebrate chromatin conformation, here we generate de novo genome assemblies for two cryptodiran (hidden-neck) turtles via Illumina sequencing, chromosome conformation capture, and RNA-seq: Apalone spinifera (ZZ/ZW, 2n = 66) and Staurotypus triporcatus (XX/XY, 2n = 54). We detected differences in the three-dimensional (3D) chromatin structure in turtles compared to other amniotes beyond the fusion/fission events detected in the linear genomes. Namely, whole-genome comparisons revealed distinct trends of chromosome rearrangements in turtles: (1) a low rate of genome reshuffling in Apalone (Trionychidae) whose karyotype is highly conserved when compared to chicken (likely ancestral for turtles), and (2) a moderate rate of fusions/fissions in Staurotypus (Kinosternidae) and Trachemys scripta (Emydidae). Furthermore, we identified a chromosome folding pattern that enables "centromere–telomere interactions" previously undetected in turtles. The combined turtle pattern of "centromere–telomere interactions" (discovered here) plus "centromere clustering" (previously reported in sauropsids) is novel for amniotes and it counters previous hypotheses about amniote 3D chromatin structure. We hypothesize that the divergent pattern found in turtles originated from an amniote ancestral state defined by a nuclear configuration with extensive associations among microchromosomes that were preserved upon the reshuffling of the linear genome.

Long noncoding (lnc)RNAs emerge as regulators of genome stability. The nuclear-enriched abundant transcript 1 (NEAT1) is overexpressed in many tumors and is responsive to genotoxic stress. However, the mechanism that links NEAT1 to DNA damage response (DDR) is unclear. Here, we investigate the expression, modification, localization, and structure of NEAT1 in response to DNA double-strand breaks (DSBs). DNA damage increases the levels and N6-methyladenosine (m⁶A) marks on NEAT1, which promotes alterations in NEAT1 structure, accumulation of hypermethylated NEAT1 at promoter-associated DSBs, and DSB signaling. The depletion of NEAT1 impairs DSB focus formation and elevates DNA damage. The genome-protective role of NEAT1 is mediated by the RNA methyltransferase 3 (METTL3) and involves the release of the chromodomain helicase DNA binding protein 4 (CHD4) from NEAT1 to fine-tune histone acetylation at DSBs. Our data suggest a direct role for NEAT1 in DDR.

Background

Pseudomonas aeruginosa is a common pathogen that contributes to progressive lung disease in cystic fibrosis (CF). Genetic factors other than CF-causing CFTR (CF transmembrane conductance regulator) variations contribute ~85% of the variation in chronic P. aeruginosa infection age in CF according to twin studies, but the susceptibility loci remain unknown. Our objective is to advance understanding of the genetic basis of host susceptibility to P. aeruginosa infection.

Alveolar capillary dysplasia (ACD) is a fatal disorder that typically presents in the neonatal period with refractory hypoxemia and pulmonary hypertension. Lung biopsy is traditionally required to establish the diagnosis. We report a 22-mo-old male who presented with anemia, severe pulmonary hypertension, and right heart failure. He had a complicated hospital course resulting in cardiac arrest and requirement for extracorporeal membrane oxygenation. Computed tomography of the chest showed a heterogenous pattern of interlobular septal thickening and pulmonary edema. The etiology of his condition was unknown, lung biopsy was contraindicated because of his medical fragility, and discussions were held to move to palliative care. Rapid whole-genome sequencing (rWGS) was performed. In 2 d it resulted, revealing a novel FOXF1 gene pathogenic variant that led to the presumptive diagnosis of atypical ACD. Cases of atypical ACD have been reported with survival in patients using medical therapy or lung transplantation. Based on the rWGS diagnosis and more favorable potential of atypical ACD, aggressive medical treatment was pursued. The patient was discharged home after 67 d in the hospital; he is currently doing well more than 30 mo after his initial presentation with only one subsequent hospitalization and no requirement for lung transplantation. Our case reveals the potential for use of rWGS in a critically ill child in which the diagnosis is unknown. rWGS and other advanced genetic tests can guide clinical management and expand our understanding of atypical ACD and other conditions.

Study conducted by researchers from the Perelman School of Medicine at the University of Pennsylvania on genome editing in non-human primates highlights

The discovery of more than 50,000 unusual i-motif structures in DNA by researchers may provide innovative strategies for treating and diagnosing diseases

As many companies are trying to develop liquid biopsy for diagnosing and preventing cancer development, the San Diego-based genome sequencing company Illumina has also joined this group.

In a genome-editing landscape low on options for plants, the new tool has scientists enthused about its applications in agriculture

At the third meeting of GP-write, researchers decide to create virus-resistant human cells