Articles
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Citation: Human Genomics 2004 1:389
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Cyclophilin nomenclature problems, or, 'a visit from the sequence police'
Why is agreement on one particular name for each gene important? As one genome after another becomes sequenced, it is imperative to consider the complexity of genes, genetic architecture, gene expression, gene...
Citation: Human Genomics 2004 1:381 -
Human pharmacogenomics: The development of a science
Until about 50 years ago, the altering of a normal drug effect by a genetic deficiency was only rarely observed. Here, my discovery of the genetic variant of butyrylcholinesterase affecting succinylcholine act...
Citation: Human Genomics 2004 1:375 -
A survey of current Bayesian gene mapping method
Recently, there has been much interest in the use of Bayesian statistical methods for performing genetic analyses. Many of the computational difficulties previously associated with Bayesian analysis, such as m...
Citation: Human Genomics 2004 1:371 -
Expression profiling of cardiovascular disease
Cardiovascular disease is the most important cause of morbidity and mortality in developed countries, causing twice as many deaths as cancer in the USA. The major cardiovascular diseases, including coronary ar...
Citation: Human Genomics 2004 1:355 -
Demographic estimates from Y chromosome microsatellite polymorphisms: Analysis of a worldwide sample
Polymorphisms in microsatellites on the human Y chromosome have been used to estimate important demographic parameters of human history. We compare two coalescent-based statistical methods that give estimates ...
Citation: Human Genomics 2004 1:345 -
A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture
Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-orde...
Citation: Human Genomics 2004 1:335 -
Distribution of genome-wide linkage disequilibrium based on microsatellite loci in the Samoan population
Whole genome-wide scanning for susceptibility loci based on linkage disequilibrium (LD) has been proposed as a powerful strategy for mapping common complex diseases, especially in isolated populations. We recr...
Citation: Human Genomics 2004 1:327 -
Editorial
Citation: Human Genomics 2004 1:325 -
'Frankenstein genes', or the Mad Magazineversion of the human pseudogenome
Annotation of the human genome is inching forward. Seven human chromosomes have now been fully annotated, covering 17 per cent of the genome, and at least one chromosome has been re-annotated. The enormity of ...
Citation: Human Genomics 2004 1:310 -
Cytochrome P450 humanised mice
Humans are exposed to countless foreign compounds, typically referred to as xenobiotics. These can include clinically used drugs, environmental pollutants, food additives, pesticides, herbicides and even natur...
Citation: Human Genomics 2004 1:300 -
Whole genome DNA copy number changes identified by high density oligonucleotide arrays
Changes in DNA copy number are one of the hallmarks of the genetic instability common to most human cancers. Previous micro-array-based methods have been used to identify chromosomal gains and losses; however,...
Citation: Human Genomics 2004 1:287 -
The genomic distribution of population substructure in four populations using 8,525 autosomal SNPs
Understanding the nature of evolutionary relationships among persons and populations is important for the efficient application of genome science to biomedical research. We have analysed 8,525 autosomal single...
Citation: Human Genomics 2004 1:274 -
Haplotype structure and linkage disequilibrium in chemokine and chemokine receptor genes
To dissect the haplotype structure of candidate genes for disease association studies, it is important to understand the nature of genetic variation at these loci in different populations. We present a survey ...
Citation: Human Genomics 2004 1:255 -
Further statistical analysis for genome-wide expression evolution in primate brain/liver/fibroblast tissue
In spite of only a 1-2 per cent genomic DNA sequence difference, humans and chimpanzees differ considerably in behaviour and cognition. Affymetrix microarray technology provides a novel approach to addressing ...
Citation: Human Genomics 2004 1:247 -
Editorial
Citation: Human Genomics 2004 1:246 -
A survey of current software for genetic power calculations
Estimation of power is a key step in any study. This review briefly outlines the factors that affect power and the two main approaches for estimating it. There are a number of web-based tools and programs free...
Citation: Human Genomics 2004 1:225 -
Christoph W. Sensen (Editor)
Citation: Human Genomics 2004 1:234 -
Update on genome completion and annotations: Protein Information Resource
The Protein Information Resource (PIR) recently joined the European Bioinformatics Institute (EBI) and Swiss Institute of Bioinformatics (SIB) to establish UniProt -- the Universal Protein Resource -- which no...
Citation: Human Genomics 2004 1:229 -
Population genetic analysis of ascertained SNP data
The large single nucleotide polymorphism (SNP) typing projects have provided an invaluable data resource for human population geneticists. Almost all of the available SNP loci, however, have been identified th...
Citation: Human Genomics 2004 1:218 -
Single nucleotide polymorphism genotyping by two colour melting curve analysis using the MGB Eclipse™ Probe System in challenging sequence environment
Probe and primer design for single nucleotide polymorphism (SNP) detection can be very challenging for A-T DNA-rich targets, requiring long sequences with lower specificity and stability, while G-C-rich DNA ta...
Citation: Human Genomics 2004 1:209 -
Characterisation of SNP haplotype structure in chemokine and chemokine receptor genes using CEPH pedigrees and statistical estimation
Chemokine signals and their cell-surface receptors are important modulators of HIV-1 disease and cancer. To aid future case/control association studies, aim to further characterise the haplotype structure of v...
Citation: Human Genomics 2004 1:195 -
The impact of sample size and marker selection on the study of haplotype structures
Several studies of haplotype structures in the human genome in various populations have found that the human chromosomes are structured such that each chromosome can be divided into many blocks, within which t...
Citation: Human Genomics 2004 1:179 -
Genome-wide analysis of the human Alu Yb-lineage
The Alu Yb-lineage is a 'young' primarily human-specific group of short interspersed element (SINE) subfamilies that have integrated throughout the human genome. In this study, we have computationally screened th...
Citation: Human Genomics 2004 1:167 -
Editorial
Citation: Human Genomics 2004 1:165 -
Stuart Brown with John Hay and Harry Ostrer
Citation: Human Genomics 2004 1:150 -
The truth about mouse, human, worms and yeast
Genome comparisons are behind the powerful new annotation methods being developed to find all human genes, as well as genes from other genomes. Genomes are now frequently being studied in pairs to provide cros...
Citation: Human Genomics 2004 1:146 -
A survey of current software for haplotype phase inference
In the past two years, tracking the explosion in data due to ever-improving single nucleotide polymorphism (SNP) maps and cheaper high-throughput genotyping technologies, a bewildering array of new algorithms ...
Citation: Human Genomics 2004 1:141 -
Genomic and proteomic approaches for studying human cancer: Prospects for true patient-tailored therapy
Global gene expression analysis is beginning to move from the laboratories of basic investigators to large-scale clinical trials. The potential of this technology to improve diagnosis and tailored treatment of...
Citation: Human Genomics 2004 1:134 -
Chromosomal phenotypes and submicroscopic abnormalities
The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation...
Citation: Human Genomics 2004 1:126 -
Pharmacogenetics of lipid diseases
The genetic basis for most of the rare lipid monogenic disorders have been elucidated, but the challenge remains in determining the combination of genes that contribute to the genetic variability in lipid leve...
Citation: Human Genomics 2004 1:111 -
Development of an integrated genome informatics, data management and workflow infrastructure: A toolbox for the study of complex disease genetics
The genetic dissection of complex disease remains a significant challenge. Sample-tracking and the recording, processing and storage of high-throughput laboratory data with public domain data, require integrat...
Citation: Human Genomics 2004 1:98 -
Robustness of the inference of human population structure: A comparison of X-chromosomal and autosomal microsatellites
In this paper, data on 20 X-chromosomal microsatellite polymorphisms from the HGDP-CEPH cell line panel are used to infer human population structure. Inferences from these data are compared to those obtained f...
Citation: Human Genomics 2004 1:87 -
Editorial
Citation: Human Genomics 2004 1:85 -
Matt Ridley
Citation: Human Genomics 2003 1:72 -
Update on human genome completion and annotations: Gene nomenclature
Why is agreeing on one particular name for each gene important? As one genome after another becomes sequenced, it is imperative to consider the complexity of genes, genetic architecture, gene expression, gene-...
Citation: Human Genomics 2003 1:66 -
A survey of current software for linkage analysis
There is now a wide choice of software available for linkage analysis. The most well known packages are briefly reviewed here. The package with the most extensive range of analyses is GENEHUNTER, but for many ...
Citation: Human Genomics 2003 1:63 -
Measuring and using admixture to study the genetics of complex diseases
Admixture is an important evolutionary force that can and should be used in efforts to apply genomic data and technology to the study of complex disease genetics. Admixture linkage disequilibrium (ALD) is crea...
Citation: Human Genomics 2003 1:52 -
Genome-wide characterisation of the binding repertoire of small molecule drugs
Most, if not all, drugs interact with multiple proteins. One or more of these interactions are responsible for carrying out the primary therapeutic effects of the drug. Others are involved in the transport or ...
Citation: Human Genomics 2003 1:41 -
Reconstructing the genomic architecture of mammalian ancestors using multispecies comparative maps
Rapidly developing comparative gene maps in selected mammal species are providing an opportunity to reconstruct the genomic architecture of mammalian ancestors and study rearrangements that transformed this an...
Citation: Human Genomics 2003 1:30 -
Integration of association statistics over genomic regions using Bayesian adaptive regression splines
In the search for genetic determinants of complex disease, two approaches to association analysis are most often employed, testing single loci or testing a small group of loci jointly via haplotypes for their ...
Citation: Human Genomics 2003 1:20 -
Gametic phase estimation over large genomic regions using an adaptive window approach
The authors present ELB, an easy to programme and computationally fast algorithm for inferring gametic phase in population samples of multilocus genotypes. Phase updates are made on the basis of a window of ne...
Citation: Human Genomics 2003 1:7 -
Editorial
Citation: Human Genomics 2003 1:5
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