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Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two(More)
Type 2 diabetes is characterized by impaired glucose homeostasis due to defects in insulin secretion, insulin resistance and the incretin response. GPR40 (FFAR1 or FFA1) is a G-protein-coupled receptor (GPCR), primarily expressed in insulin-producing pancreatic β-cells and incretin-producing enteroendocrine cells of the small intestine. Several GPR40(More)
The incidence rate for invasive and noninvasive Staphylococcus aureus infections in New Zealand is among the highest reported in the developed world. Using nationally collated hospital discharge data, we analyzed the epidemiology of serious S. aureus infections in New Zealand during 2000-2011. During this period, incidence of S. aureus skin and soft tissue(More)
BACKGROUND DNA copy number alterations are one of the main characteristics of the cancer cell karyotype and can contribute to the complex phenotype of these cells. These alterations can lead to gains in cellular oncogenes as well as losses in tumor suppressor genes and can span small intervals as well as involve entire chromosomes. The ability to accurately(More)
This paper discusses the development of a new information representation system embodied in ontology and the Semantic Web. The new system differs from other representation systems in that it is based on a more sophisticated semantic representation of information, aims to go well beyond the document level, and designed to be understood and processed by(More)
Changes in DNA copy number are one of the hallmarks of the genetic instability common to most human cancers. Previous microarray-based methods have been used to identify chromosomal gains and losses; however, they are unable to genotype alleles at the level of single nucleotide polymorphisms (SNPs). Here we describe a novel algorithm that uses a recently(More)
Recent reports indicate that copy number variations (CNVs) within the human genome contribute to nucleotide diversity to a larger extent than single nucleotide polymorphisms (SNPs). In addition, the contribution of CNVs to human disease susceptibility may be greater than previously expected, although a complete understanding of the phenotypic consequences(More)
BACKGROUND Although the burden of infectious diseases seems to be decreasing in developed countries, few national studies have measured the total incidence of these diseases. We aimed to develop and apply a robust systematic method for monitoring the epidemiology of serious infectious diseases. METHODS We did a national epidemiological study with all(More)
Infection with Campylobacter spp. commonly precedes Guillain-Barré syndrome (GBS). We therefore hypothesized that GBS incidence may have followed a marked rise and then decline in campylobacteriosis rates in New Zealand. We reviewed records for 1988-2010: hospitalization records for GBS case-patients and campylobacteriosis case-patients plus notifications(More)
In the original manuscript, we reported the demonstration of an integrated microfluidic chip that performed helicase dependent amplification (HDA) on samples containing live bacteria. Bacterial lysis, nucleic acid extraction, and DNA amplification with a fluorescent reporter were incorporated into a disposable polymer cartridge format. We reported that the(More)