Beyond the simple stream of one-letter characters in the human genome sequence lies a complex, higher-order code. In order to decipher this level of architecture, scientists have developed powerful new experimental and algorithmic methods to detect copy number variants (CNVs)--defined as large deletions and duplications of DNA segments. These technologies--reported today in the journal Genome Research--were used to create the first comprehensive map of CNVs in the human genome, concurrently published in Nature. A related article appears in Nature Genetics.

Mutations in a key brain protein known to underlie a form of Parkinson's disease (PD) wreaks its damage by stunting the normal growth and branching of neurons, researchers have found. They have pinpointed the malfunction of the protein made by mutant forms of the gene called LRRK2 and how it affects neurons, ultimately leading to their death. The loss of dopamine-producing neurons is central to the pathology of PD, and loss of connections among such neurons is an early feature of the PD disease process.

Size and shape may predict the survival of corals around the world when the weather churns the oceans in the years to come, according to a new model that relies on engineering principles.

A new technology for measuring blood oxygen levels of a baby during labor--expected to provide information useful for preventing birth complications--offers no apparent benefit, report researchers in a National Institutes of Health research network.

The scientists discovered the mother complete with her brood of some 20 eggs and 2 possible juveniles inside, together with other details of her soft part anatomy including legs and eyes.

76% of workers older than 60 years of age are overweight or obese. However, less than one third of those 40 years of age and younger suffer these health issues. This is one of the conclusions shown in the research of Alberto Cordero of the School of Medicine, and the University Hospital, published in the American Journal of Hypertension, the Revista Española de Cardiología [Spanish Journal of Cardiology] and Medicina Clínica [Clinical Medicine].

Recreating growth conditions in flea carriers and mammal hosts, Pacific Northwest National Laboratory scientists have uncovered 176 proteins and likely proteins in the plague-bacterium Yersinia pestis whose numbers rise and fall according to the disease’s virulence.

Children who were allergic to eggs were able to essentially overcome their allergy by gradually consuming increased quantities of eggs over time, researchers at Duke University Medical Center and the University of Arkansas for Medical Sciences have found in a small pilot study.

Picture of a juvenile H. asinina shell. Credit: Credit to Daniel Jackson Scientists have identified a group of genes that control the formation of shapes and colour patterns on the shell of the tropical marine mollusc referred to as 'abalone'. A study published today in the open access journal BMC Biology reveals that the shape and colour patterns on the shell of the mollusc mirror the localised expression of specific genes in the mantle, a layer of skin situated just below the shell. The authors of the study identify one gene in particular that controls the formation of blue dots on the shell of the mollusc.

An examination of 4 cases of botulism following cosmetic injections to the face indicates that the adults received a highly concentrated, unlicensed preparation that resulted in toxin levels up to 40 times the estimated human lethal dose, according to a report in the November 22/29 issue of JAMA.