Researchers report on the use of denoising autoencoders (DAs) to effectively extract key biological principles from gene expression data and summarize them into constructed features with convenient properties.
Scientists have identified a gene that helps regulate how well nerves of the central nervous system are insulated, researchers at Washington University School of Medicine in St. Louis report.
Striving to unravel and comprehend DNA’s biological significance, Cornell University scientists have created a new computational method that can identify positions in the human genome that play a role in the proper functioning of cells, according to a report published Jan. 19 in the journal Nature Genetics.
For the first time, researchers at Penn Medicine have found that a mutation in the ATRX gene may serve as a much-needed biomarker for the pheochromocytomas and paragangliomas that become malignant. These rare neuroendocrine tumors are typically benign, but when they go rogue, they become very aggressive.
Researchers at the University of Michigan Comprehensive Cancer Center analyzed the global landscape of a portion of the genome that has not been previously well-explored. This analysis opens the door to discovery of thousands of potential new cancer biomarkers.
Scientists have gained new insight into fragile X syndrome — the most common cause of inherited intellectual disability — by studying the case of a person without the disorder, but with two of its classic symptoms.
A new study from researchers at the University of Michigan Comprehensive Cancer Center characterizes the genetic underpinnings of a rare type of breast tumor called phyllodes tumors, offering the first comprehensive analysis of the molecular alterations at work in these tumors.
Up to 8 percent of people from India, Pakistan, Bangladesh and other South Asian countries carry a mutated gene that causes heart failure and potentially fatal heart attacks. A new study demonstrates how this gene mutation impairs the heart’s ability to pump blood.
New research by a team of biologists at Florida State University has revealed that creating antivenom is a bit tricky. That’s because the type of venom a snake produces can change according to where it lives.
Case Comprehensive Cancer Center researchers have identified new gene mutations unique to colon cancers in African Americans – the population with the highest incidence and death rates of any group for this disease.
Why do some people develop post-traumatic stress disorder (PTSD) while others who suffered the same ordeal do not? A new UCLA discovery may shed light on the answer.
• Among patients with a kidney disease called focal segmental glomerulosclerosis (FSGS), those who had certain genetic variants tended to have more advanced disease when they were diagnosed.
• Patients with the variants responded to immunosuppressant treatments just as well as other patients but tended to progress more rapidly to kidney failure.
A new study by researchers at Children’s Hospital Los Angeles has shown that tissue-engineered small intestine grown from human cells replicates key aspects of a functioning human intestine.
Venom from an eastern diamondback rattlesnake in the Everglades is distinct from the cocktail of toxins delivered by the same species in the Florida panhandle area, some 500 miles away. But no matter where you go in the Southeastern United States, the venom of the eastern coral snake is always the same. The results of a large-scale survey of venom variation in the two snake species, published January 8, 2015 in the journal GENETICS, challenge common assumptions in venom evolution research, provide crucial information for rattlesnake conservation, and will help coral snake antivenom development.
A discovery by researchers at Huntsman Cancer Institute shows that looking at whether a man’s uncles and great-grandparents, among other second- and third-degree relatives, had prostate cancer could be as important as looking at whether his father had prostate cancer. A more complete family history would give physicians a new tool to decide whether or not a PSA test was appropriate.
Even with modern genomewide analysis techniques, it has proven difficult to identify genetic factors affecting risk for depression, according to a topical review in the January issue of Harvard Review of Psychiatry. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.
An analysis of the genomes and epigenomes of lean and obese mice and humans has turned up a wealth of clues about how genes and the environment conspire to trigger diabetes, Johns Hopkins researchers say. Their findings reveal that obesity-induced changes to the epigenome — reversible chemical “tags” on DNA — are surprisingly similar in mice and humans, and might provide a new route to prevention and treatment of the disease, which affects hundreds of millions worldwide.
For a skin cell to do its job, it must turn on a completely different set of genes than a liver cell — and keep genes it doesn’t need switched off. One way of turning off large groups of genes at once is to send them to “time-out” at the edge of the nucleus. New research shows how DNA gets sent to the nucleus’ far edge, a process critical to controlling genes and determining cell fate.
A powerful “genome editing” technology known as CRISPR has been used by researchers since 2012 to trim, disrupt, replace or add to sequences of an organism’s DNA. Now, scientists at Johns Hopkins Medicine have shown that the system also precisely and efficiently alters human stem cells.
A team of scientists has sequenced whole genomes from 544 unrelated trees of the same species. An August 2014 study identified gene sequences from Populus trichocarpa, to understand how trees adapt to different climates.
A new study from scientists at The Scripps Research Institute suggests therapies that change gene expression in parents could help their children. Research showed offspring of mice treated with a drug also had delayed onset and reduced symptoms of Huntington’s disease.
Efforts to connect the evolutionary transition from fish fins to wrist and fingers with the genetic machinery for this adaptation have fallen short because they focused on the wrong fish. Now, researchers describe the genetic machinery for autopod assembly in a non-model fish, the spotted gar.
New findings show how an inactivating polymorphism in the TLR5 Gene that occurs in more than one out of 15 people, plays important role in progression of luminal breast cancer and ovarian cancer
The majority of RNA expression differences between individuals have no connection to the abundance of a corresponding protein, report scientists from the University of Chicago in Science. The results point to a yet-unidentified gene regulatory mechanism.
University of Toronto researchers from Engineering, Biology and Medicine teach computers to ‘read the human genome’ and rate likelihood of mutations causing disease, opening vast new possibilities for medicine
Chemical modifications to DNA’s packaging — known as epigenetic changes — can activate or repress genes involved in autism spectrum disorders (ASDs) and early brain development, according to a new study to be published in the journal Nature on Dec. 18.
While people of Mexican ancestry are nearly twice as likely to develop Type 2 diabetes as people of European heritage, the majority of research in this area has focused on those of European origin.
Using an innovative technique combining genetic analysis and mathematical modeling with some basic sleuthing, researchers have identified previously undescribed microlesions in brain tissue from epileptic patients. The millimeter-sized abnormalities may explain why areas of the brain that appear normal can produce severe seizures in many children and adults with epilepsy.
Researchers from NYU Langone Medical Center have developed the first animal model with inherited cardiac arrhythmia -- an advance that could lead to better understanding of the biological mechanisms of normal heart conduction and rhythm.
“Media reports about behavioural genetics unintentionally induce unfounded beliefs, therefore going against the educational purpose of scientific reporting,” writes the University of Montreal’s Alexandre Morin-Chassé.
Both positive and negative experiences influence how genetic variants affect the brain and thereby behaviour, according to a new study. “Evidence is accumulating to show that the effects of variants of many genes that are common in the population depend on environmental factors. Further, these genetic variants affect each other,” explained Sheilagh Hodgins of the University of Montreal and its affiliated Institut Universitaire en Santé Mentale de Montréal.
New research at Washington University School of Medicine in St. Louis challenges the view that cancer treatment in itself is a direct cause of a fatal form of leukemia that can develop several years after chemotherapy or radiation.
A pair of studies to be presented at the American Epilepsy Society’s (AES) 68th Annual Meeting provides innovative insights into the genetic underpinnings of childhood epilepsies.
Genetics may play a larger role in causing Lou Gehrig’s disease than previously believed, potentially accounting for more than one-third of all cases, according to one of the most comprehensive genetic studies to date of patients who suffer from the condition also known as amyotrophic lateral sclerosis, or ALS.
Scientists at Penn State College of Medicine, working alongside an international team of researchers, have produced the most complete encyclopedia of functional elements in the mouse genome to date and compared it to the human genome. The findings, published recently in Nature, uphold the mouse model of human disease, but pinpoint important differences in gene expression that will guide future health research.
Scientists from WCS (Wildlife Conservation Society), the American Museum of Natural History (AMNH), the Environment Society of Oman, and other organizations have made a fascinating discovery in the northern Indian Ocean: humpback whales inhabiting the Arabian Sea are the most genetically distinct humpback whales in the world and may be the most isolated whale population on earth. The results suggest they have remained separate from other humpback whale populations for perhaps 70,000 years, extremely unusual in a species famed for long distance migrations.
A team led by Florida State University researchers has identified DNA elements in maize that could affect the expression of hundreds or thousands of genes.
New research shows that the majority of consumers will accept the presence of nanotechnology or genetic modification (GM) technology in foods – but only if the technology enhances the nutrition or improves the safety of the food.
Most patients with triple-negative breast cancer should undergo genetic testing for mutations in known breast cancer predisposition genes, including BRCA1 and BRCA2, a Mayo Clinic-led study has found. The findings come from the largest analysis to date of genetic mutations in this aggressive form of breast cancer. The results of the research appear in the Journal of Clinical Oncology.
A new project will provide computational tools designed to help identify and characterize the gene diversity of the residents of microbial communities.
Of about 450 different species of mosquitoes in the Anopheles genus, only about 60 can transmit the Plasmodium malaria parasite that is harmful to people. The team chose 16 mosquito species that are currently found in Africa, Asia, Europe, and Latin America, but evolved from the same ancestor approximately 100 million years ago.
People affected by a common inherited form of autism could be helped by a drug that is being tested as a treatment for cancer, according to researchers from the University of Edinburgh and McGill University.
Scientists have believed that the lengthening of those repeats occur during DNA replication when cells divide or when the cellular DNA repair machinery gets activated. Recently, however, Tufts University researchers have traced expansive repeats to the process called transcription, which is copying the information from DNA into RNA.
Researchers have identified genetic markers that may help to identify individuals at risk for acute kidney injury (AKI) in the hospital setting. Presented at ASN Kidney Week 2014 in Philadelphia, PA, the study offers new clues about the development of AKI and could lead to potential therapeutic interventions.