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New approach to 'spell checking' gene sequences

A new software tool called Acacia has been developed to correct errors in DNA sequencing, allowing biologists to accurately interpret genetic information. The tool, created by CSIRO PhD student Lauren Bragg, uses statistical theory to analyze code for DNA bases and improve accuracy.

Whale population size, dynamics determined based on ancient DNA

A study using ancient DNA from archaeological sites found that gray whales had a substantially larger population before whaling and experienced a sharp recent decrease, consistent with whaling as the cause. The research suggests a pre-whaling decrease in population size of about 78,000 to 116,000 individuals.

A needle in a haystack: How does a broken DNA molecule get repaired?

Researchers from Delft University of Technology have discovered a crucial step in the DNA repair process, revealing how a broken DNA molecule efficiently searches for a matching sequence. The discovery uses a dual-molecule technique to clarify why certain sequences lead to quick dissociation while others form strong bonds.

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DNA origami puts a smart lid on solid-state nanopore sensors

Researchers at TUM developed DNA origami 'gatekeepers' that can filter biomolecules by size, allowing selective detection of specific target molecules. The device combines solid-state nanopores with custom-designed DNA structures for enhanced single-molecule sensing capabilities.

Tiny reader makes fast, cheap DNA sequencing feasible

Researchers have developed a nanoscale sensor that can electronically read the sequence of a single DNA molecule, leading to potential breakthroughs in personalized medicine. The technique is fast and inexpensive, making it possible to reveal predispositions for afflictions like cancer, diabetes, or addiction.

Plant DNA speaks English, identifies new species

Researchers have successfully diagnosed a new species of plant using DNA barcoding, a method that relies on short DNA sequences for identification. The study marks a significant shift towards English-language diagnoses, which will enable scientists to more easily share and verify findings.

Next-generation DNA sequencing to improve diagnosis for muscular dystrophy

Scientists at the University of Nottingham used next-generation DNA sequencing to correct a patient's genetic diagnosis from incorrect to accurate. The new technique enables fast and affordable analysis of human genomes, providing hope for thousands of people living with muscle-wasting diseases in the UK.

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When is a gene not a gene?

Researchers have developed a new catalogue of loss-of-function (LoF) variants to better understand the normal function of human genes. The study identifies over 1000 LoF variants, some of which are rare and potentially harmful, while others may not have a significant effect on health.

Preventing the devil's downfall

Researchers sequenced the Tasmanian devil cancer genome to understand its origin and spread. The study found that the cancer arose from a single female Tasmanian devil and has genetically diverged during its spread, indicating some sub-types may be more virulent.

Parasites or not? Transposable elements in fruit flies

Researchers have cataloged all transposable elements in a population of fruit flies using Pool-Seq technology. The findings reveal that most elements are purged before becoming established, but some sites show positive selection for insertion, suggesting beneficial effects on the host.

UCSF shares $25-million grant to find epilepsy genes

Researchers at UCSF are sequencing the DNA of 4,000 people with various forms of epilepsy in a bid to identify the genetic causes of the disease. The study, funded by a $25-million grant, will also explore ways to treat people with epilepsy and uncover new patterns of genetics.

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The bigger picture of population genomics

Researchers have developed a software package called PoPoolation2 to compare population data, facilitating the study of evolution and adaptation. The tool uses next-generation sequencing methods to determine allele frequencies between populations, providing insights into evolutionary processes.

Uncharted territory: Scientists sequence the first carbohydrate biopolymer

Researchers led by Robert Linhardt of Rensselaer Polytechnic Institute have sequenced the first complex carbohydrate biopolymer, bikunin. The discovery provides a fundamental new view of these vital biomolecules, which play roles in cell structure and development, disease pathology, and blood clotting.

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Close up look at a microbial vaccination program

Berkeley lab researchers have discovered a complex protein structure in E.coli that plays a critical role in defending against viruses and other invaders. The 'Cascade' complex acts as a surveillance system, detecting and inactivating invading pathogens using RNA-guided target binding.

From mild-mannered to killer plague

Scientists identify genetic differences between mild and deadly Plague bacteria, revealing the role of small non-coding RNAs in disease severity. The study provides new insights into the evolution of pathogens and potential therapeutic targets for deadly diseases like the Plague.

Scientists receive grant to develop new DNA sequencing method

Researchers at the University of Southampton are developing a novel device to directly sequence single DNA strands, aiming to improve genome analysis. The new method could provide faster and cheaper DNA sequencing, eliminating complex biochemical processes.

Researchers produce detailed map of gene activity in mouse brain

Researchers have created a detailed map of gene expression in the mouse cerebral cortex, which shares 90% of its genes with humans. The atlas provides insight into how genes work in this complex region of the brain, including correlations between specific genes and human diseases such as Parkinson's and Alzheimer's.

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Genomics and social network analysis team up to solve disease outbreaks

Researchers used whole genome sequencing and social network analysis to track a tuberculosis outbreak in British Columbia, identifying key individuals as superspreaders and behaviors contributing to the outbreak. The technique allowed public health officials to reconstruct outbreaks and understand how pathogens move through populations.

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US Department of Energy programs leader wins education award

Cheryl A. Kerfeld, a structural biologist, has won the American Society for Biochemistry and Molecular Biology's Award for Exemplary Contributions to Education for her innovative approach to teaching genomics and bioinformatics. Her educational programs have been adopted by over 65 institutions, empowering undergraduate students to ann...

Noninvasive test for trisomy 21 closer at hand

A new noninvasive test for trisomy 21 has been developed using DNA sequencing of maternal blood plasma, accurately detecting the extra chromosome in 100% sensitivity and 99.7% specificity. The test shows promise as a potential alternative to invasive prenatal testing.

Uncovering the genetics of prostate cancer

A research project aims to analyze the genomes of 250 prostate cancer patients under 50 to identify genetic mutations that cause and promote the disease. The goal is to produce a comprehensive map of genetic modifications involved in prostate cancer, which may lead to new treatment approaches and diagnostic methods.

Your genome in minutes: New technology could slash sequencing time

Researchers from Imperial College London have developed technology that could sequence a human genome in mere minutes, potentially unlocking personal susceptibility to diseases. The technology uses nanopores and could lead to fast, inexpensive genome sequencing with numerous benefits for medical tests and DNA profiles.

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A new read on DNA sequencing

Biophysicist Stuart Lindsay's new technique uses recognition molecules to grasp each base in turn, generating a distinct electronic signal that identifies each base. This allows for the reading of individual bases without interference from neighboring bases, including recognition of epigenetic modifications.

Finding variants in the human genome

The latest phase of the HapMap Project reveals rare genetic variants distributed unevenly among populations, with some genes under selection in different populations. The study provides a framework for future genetic studies of variation and disease, highlighting the importance of examining diverse populations.

Discovered gene causes Kabuki syndrome

Researchers discover genetic alterations in the MLL2 gene that account for most cases of Kabuki syndrome, a rare disorder with multiple birth defects and mental retardation. The new DNA sequencing strategy quickly identifies the gene variants responsible for the condition.

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Kinked nanopores slow DNA passage for easier sequencing

Researchers at Sandia National Laboratories have developed kinked nanopores that can slow down DNA transmission, enabling easier DNA sequencing. The innovation uses self-assembly techniques and atomic-layer deposition to achieve a fivefold slowdown in voltage-driven translocation speeds.

Understanding genetic mixing through migration

Researchers analyze genomes of two individuals with mixed ancestry to study the genetic basis of complex diseases. The study provides a clearer picture of the ancestry of genome sequences for individuals studied, revealing the approximate number of generations at which genetic mixing occurred and estimating the rate of admixture.

Gene discovery potential key to cost-competitive cellulosic ethanol

Scientists at Oak Ridge National Laboratory have identified a key gene for improving the conversion process of cellulosic biomass into ethanol. The modified microorganism shows enhanced efficiency and potential use for more cost-effective biofuel production, overcoming current pretreatment challenges.

Low-cost, ultra-fast DNA sequencing brings diagnostic use closer

A new nanopore method for DNA sequencing has been developed by Boston University researchers, enabling ultra-fast and low-cost genetic analysis. The technique uses solid-state nanopores to detect DNA molecules, achieving readout rates of up to 200 bases per second.

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Enabling easy access to DNA sequence information

The European Nucleotide Archive (ENA) consolidates three major sequence resources, providing free access to over 20 terabases of nucleotide sequence data. The ENA offers improved submission and data-access tools, making it easier for users to share their sequence data.

Refined tools help pinpoint disease-causing genes

A new approach detects rare but powerful causal gene variants, accounting for significant proportions of the 'missing heritability' problem in common diseases. The technique may identify individual patients with specific mutations, enabling more meaningful diagnostic results and potential treatments.

Mescal worm test shows DNA leaks into preservative liquids

Scientists have discovered DNA from the agave butterfly caterpillar in mescal liquor, confirming their theory that preserved specimens can leak into preservative liquids. This breakthrough allows for non-invasive genetic analysis protocols, reducing the need for tissue samples or DNA extraction.

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Yale's scan of Turkish infant's genome yields a surprise diagnosis

A Yale team used whole exome sequencing to identify a mutation in a Turkish baby's genome, leading to a surprise diagnosis and treatment of congenital chloride diarrhea. The approach has potential for dramatic insights into human diseases and could become commonly used in clinical settings.

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Can genetic information be controlled by light?

DNA's photostability is influenced by its base sequences, with different combinations exhibiting varying fluorescence lifetimes. This discovery could lead to new diagnostic methods and potentially repair gene mutations using laser radiation.

New blood test for Down syndrome

Researchers at Howard Hughes Medical Institute have created a non-invasive blood test that accurately detects Down syndrome and two other serious chromosomal defects. The test is more accurate than previous methods and can provide results within a few days, reducing the wait time for anxious parents.

Photosynthesizing bacteria with a day-night cycle contain rare chromosome

Scientists have found a novel linear chromosome in cyanobacterium Cyanothece 51142, containing genes important for producing biofuels. The discovery was made possible by simultaneous DNA sequencing and protein analysis, which revealed more genes on the linear and circular chromosomes than previously thought.

Large reservoir of mitochondrial DNA mutations identified in humans

A study published in the American Journal of Human Genetics reveals a significant presence of mitochondrial DNA mutations in the general population. Researchers found that at least 1 in 200 individuals harbor pathogenic mitochondrial DNA mutations, which may lead to diseases such as muscle weakness and diabetes.

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Gene sequence that can make half of us fatter is discovered

Researchers have identified a gene sequence associated with an expanding waist line, weight gain, and insulin resistance, affecting half of the UK population. The sequence is more common in Indian Asians than Europeans, providing a possible genetic explanation for the high levels of obesity and diabetes in this group.

Preliminary DNA analysis completed on California wolverine

Preliminary results from DNA analysis of wolverine scat samples collected on the Tahoe National Forest do not match those of historic California wolverine populations. The animal is identified as a male wolverine that does not genetically match populations in Washington or Southern Sierra Nevada.

Scientists decode genomes of diverse TB isolates

Researchers sequence genomes of multi-drug resistant and drug-sensitive TB isolates, revealing few genetic differences that contribute to drug resistance. The findings shed light on the genetic factors driving TB drug resistance and lay the groundwork for a rapid diagnostic test.

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New study sheds light on Galápagos hawk evolutionary history

A new study published in Molecular Ecology sheds light on the Galápagos hawk's evolutionary history by analyzing DNA sequences from feather lice. The research reveals how island populations of the bird might have colonized the Galápagos islands, and provides insights into the evolution of cooperative behavior.