Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing a child with CDG and pinpointing the exact sugar gene that's mutated can be a huge relief for parents—they better understand what they're dealing with and doctors can sometimes use that information to develop a therapeutic approach. Whole-exome sequencing, an abbreviated form of whole-genome sequencing, is increasingly used as a diagnostic for CDG.

When Woods Hole Oceanographic Institution (WHOI) marine paleoecologist Marco Coolen was mining through vast amounts of genetic data from the Black Sea sediment record, he was amazed about the variety of past plankton species that left behind their genetic makeup (i.e., the plankton paleome).

The U.S. Department of Energy Joint Genome Institute (DOE JGI) is among the world leaders in sequencing the genomes of microbes, focusing on their potential applications in the fields of bioenergy and environment. As a national user facility, the DOE JGI is also focused on developing tools that more cost-effectively enable the assembly and analysis of the sequence that it, as well as other genome centers, generates.

A new study led by researchers from Harvard School of Public Health (HSPH) and the Wellcome Trust Sanger Institute in the UK has, for the first time, used genome sequencing technology to track the changes in a bacterial population following the introduction of a vaccine. The study follows how the population of pneumococcal bacteria changed following the introduction of the 'Prevnar' conjugate polysaccharide vaccine, which substantially reduced rates of pneumococcal disease across the U.S. The work demonstrates that the technology could be used in the future to monitor the effectiveness of vaccination or antibiotic use against different species of bacterial pathogens, and for characterizing new and emerging threats.

Endometrial tumors can be reclassified into distinct subtypes based partly on their genomic makeup and may respond to targeted drugs already being tested in clinical trials, according to a large-scale genomic analysis led by researchers at Memorial Sloan-Kettering Cancer Center and other centers within The Cancer Genome Atlas (TCGA) Research Network.

An historic fish, with an intriguing past, now has had its genome sequenced, providing a wealth of information on the genetic changes that accompanied the adaptation from an aquatic environment to land. A team of international researchers led by Chris Amemiya, PhD, Director of Molecular Genetics at the Benaroya Research Institute at Virginia Mason (BRI) and Professor of Biology at the University of Washington, will publish "The African coelacanth genome provides insights into tetrapod evolution" April 18 as the cover article in Nature. The coelacanth genome was sequenced by the Genome Center at the Broad Institute of MIT and Harvard, and analyzed by an international consortium of experts.

The genome of the western painted turtle (Chrysemys picta bellii) one of the most widespread, abundant and well-studied turtles in the world, is published this week in Genome Biology. The data show that, like turtles themselves, the rate of genome evolution is extremely slow; turtle genomes evolve at a rate that is about a third that of the human genome and a fifth that of the python, the fastest lineage analyzed.

In a collaborative study published online in Nature Genetics, researchers from Cardiff University, BGI, International Wildlife Consultants, Ltd., and Abu Dhabi Falcon Hospital, have completed the genome sequencing and analysis of two iconic falcons, the peregrine (Falco peregrinus) and saker (Falco cherrug). The work provides an invaluable resource for the deep understanding of the adaptive evolution in raptors and the genetic basis of their wide distribution.

HeLa cells are the world's most commonly used human cell lines, and have served as a standard for understanding many fundamental biological processes. In a study published today in G3: Genes, Genomes and Genetics online, scientists at the European Molecular Biology Laboratory in Heidelberg, announce they have successfully sequenced the genome of a HeLa cell line. It provides a high-resolution genomic reference that reveals the striking differences between the HeLa genome and that of normal human cells. The study could improve the way HeLa cells are used to model human biology.

The National Center for Supercomputing Applications (NCSA) has gifted the Institute for Genomic Biology (IGB) a highly parallel shared memory supercomputer named Ember. Originally funded by the NSF, Ember will be managed by the High-Performance Biological Computing (HPCBio) group.

A new form of genetic testing of the bacteria that causes tuberculosis can provide better information on TB transmission and also trace TB outbreaks more accurately than the current standard test, according to a study from Germany published in this week's PLOS Medicine.

The European Commission has chosen the Human Brain Project, in which the Hebrew University of Jerusalem is participating, as one of two Future and Emerging Technologies Flagship topics. The enterprise will receive funding of 1.19 billion euros over the next decade.

A novel software tool, developed at The Children's Hospital of Philadelphia, streamlines the detection of disease-causing genetic changes through more sensitive detection methods and by automatically correcting for variations that reduce the accuracy of results in conventional software. The software, called ParseCNV, is freely available to the scientific-academic community, and significantly advances the identification of gene variants associated with genetic diseases.

The Personal Genome Project Canada (PGP-C) launches this week giving Canadians an unprecedented opportunity to participate in a groundbreaking research study about human genetics and health.

The National Geographic Society today announced the next phase of its Genographic Project — the multiyear global research initiative that uses DNA to map the history of human migration. Building on seven years of global data collection, Genographic shines new light on humanity's collective past, yielding tantalizing clues about humankind's journey across the planet over the past 60,000 years.

In a major international study, the pig genome is now mapped. Researchers from Uppsala University and the Swedish University of Agricultural Sciences (SLU), have contributed to the study by analysing genes that played a key role in the evolution of the domesticated pig and by mapping endogenous retroviruses (ERV), retroviruses whose genes have become part of the host organism's genome. The findings are now being published in the journals Nature and PNAS.

Sudhir Kumar directs the Center for Evolutionary Medicine and Informatics at the Biodesign Institute, Arizona State University. With its deeply embedded roots, sturdy trunk and dense profusion of branches, the Tree of Life is a structure of nearly unfathomable complexity and beauty. While major strides have been made to establish the evolutionary hierarchy encompassing every living species, the project is still in its infancy.

The glowing areas in this zebrafish embryo show the activity of one of the brain enhancer sequences identified. Johns Hopkins researchers have succeeded in teaching computers how to identify commonalities in DNA sequences known to regulate gene activity, and to then use those commonalities to predict other regulatory regions throughout the genome. The tool is expected to help scientists better understand disease risk and cell development.

By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic variation. The massive resource will help medical researchers find the genetic roots of rare and common diseases in populations worldwide. By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic variation. The massive resource will help medical researchers find the genetic roots of rare and common diseases in populations worldwide.

An international research team, led by Institute of Oceanology of Chinese Academy of Sciences and BGI, has completed the sequencing, assembly and analysis of Pacific oyster (Crassostrea gigas) genome—the first mollusk genome to be sequenced—that will help to fill a void in our understanding of the species-rich but poorly explored mollusc family. The study, published online today in Nature, reveals the unique adaptations of oysters to highly stressful environment and the complexity mechanism of shell formation.

Since the sequencing of the human genome in 2001, all our genes – around 20,000 in total – have been identified. But much is still unknown – for instance where and when each is active. Next to each gene sits a short DNA segment, and the activity of this regulatory segment determines whether the gene will be turned on, where and how strongly. These short regulatory segments are as – if not more – important than the genes, themselves. Indeed, 90% of the mutations that cause disease occur in these regulatory areas. They are responsible for the proper development of tissues and organs, determining, for instance, that eye cells – and only eye cells – contain light receptors, while only pancreatic cells function to produce insulin. Clearly, a deeper understanding of this regulatory system – its mechanisms and possibilities for malfunction – may lead to advances in biomedical research, especially in developing targeted therapies for individual patients.

The GENCODE Consortium expects the human genome has twice as many genes than previously thought, many of which might have a role in cellular control and could be important in human disease. This remarkable discovery comes from the GENCODE Consortium, which has done a painstaking and skilled review of available data on gene activity.

Matthias Meyer at work in the clean lab. The analyses of an international team of researchers led by Svante Pääbo of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, show that the genetic variation of Denisovans was extremely low, suggesting that although they were present in large parts of Asia, their population was never large for long periods of time. In addition, a comprehensive list documents the genetic changes that set apart modern humans from their archaic relatives. Some of these changes concern genes that are associated with brain function or nervous system development.

This is an Asiatic pear tree. The first sequencing of the Asiatic pear genome has recently been completed by an international consortium of seven worldwide universities and institutions including the University of Illinois.

Chromosomes are strands of DNA that contain the blueprint of all living organisms. Humans have 23 pairs of chromosomes that instruct how genes are regulated during development of the human body. While scientists have developed an understanding of the one-dimensional structure of DNA, until today, little was known about how different parts of DNA are folded next to each other inside the nucleus.

Analyzing massive amounts of data officially became a national priority recently when the White House Office of Science and Technology Policy announced the Big Data Research and Development Initiative. A multi-disciplinary team of University of Missouri researchers rose to the big data challenge when they solved a major biological question by using a groundbreaking computer algorithm to find identical DNA sequences in different plant and animal species.

With sharp declines in the cost of whole genome sequencing, the day of accurately deciphering disease risk based on an individual's genome may seem at hand. But a study involving data of thousands of identical twins by Johns Hopkins investigators finds that genomic fortune-telling fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test results.

Researchers announce today that they have completed the genome sequence for the gorilla, the last genus of the living great apes to have its genome decoded. While confirming that mankind's closest relative is the chimpanzee, the team shows that much of the human genome more closely resembles the gorilla than it does the chimpanzee genome. This is the first time scientists have been able to compare the genomes of all four living great apes: humans, chimpanzees, gorillas and orangutans. This study provides a unique perspective on human origins and is an important resource for research into human evolution and biology as well as for gorilla biology and conservation.

Genomes are catalogs of hereditary information that determine whether an organism becomes a plant, animal, fungus or microbe, and whether the organism is adapted to its surroundings. Determining the sequence of DNA within genomes is crucial to human medicine, crop genetics, biotechnology, forensic science, threatened species management, and evolutionary studies. The last 5 years have witnessed tremendous advances in DNA sequencing technologies, and it is now possible to sequence millions of fragments of DNA in a single analysis, and at a fraction of their previous cost. These "next-generation" methods are spurring a revolution in plant biology by providing powerful tools to examine previously-unimagined questions, in any plant of interest.

Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction.