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A report on the Keystone Symposia on MicroRNAs and Cancer, Keystone, Colorado, USA, 10-15 June 2009.
Genome-wide association analyses on large patient cohorts are generating large sets of candidate disease genes. This is coupled with the availability of ever-increasing genomic databases and a rapidly expandin...
The age at natural menopause shows great variability. It has been proposed that early age at menopause is a risk factor for osteoporosis and cardiovascular disease, whereas later age at menopause is a risk fac...
Will the routine availability of genome sequence information on individuals render family history information obsolete? I argue that it will not, both because the taking of a family history has other uses for ...
Neuroblastoma is one of the most common solid tumors of childhood, arising from immature sympathetic nervous system cells. The clinical course of patients with neuroblastoma is highly variable, ranging from sp...
There is value to patients, clinicians and researchers from having a single electronic health record data standard that allows an integrated view, including genotype and phenotype data. However, it is importan...
Psoriasis is recognized as a complex disease for which multiple genetic and non-genetic factors influence susceptibility. The major susceptibility locus resides in the MHC class I region and, until relatively ...
A report of the workshop 'Direct-to-consumer genetic testing: ethical and regulatory issues', Oxford, UK, 21 May 2009.
Although most stem cell therapy has been non-controversial, therapy based on pluripotent stem cells has raised both ethical and safety concerns. Despite these concerns, the use of cells derived from pluripoten...
Medical treatment for patients has historically been based on two primary elements: the expected outcome for the patient, and the ability of treatment to improve the expected outcome. The advance in genomic te...
The incidence of cancer and its associated mortality are increasing globally, indicating an urgent need to develop even more effective and sensitive sets of biomarkers that could help in early diagnosis and co...
A report on the meeting of the European Society of Human Genetics, Vienna, Austria, 23-26 May 2009.
Identification of common-variant associations for many common disorders has been highly effective, but the loci detected so far typically explain only a small proportion of the genetic predisposition to diseas...
The efforts of the Human Genome Project are beginning to provide important findings for human health. Technological advances in the laboratory, particularly in characterizing human genomic variation, have crea...
Although investigators using methodologies in bioinformatics have always been useful in genomic experimentation in analytic, engineering, and infrastructure support roles, only recently have bioinformaticians ...
Prion diseases share common features of neurodegenerative disorders, infectious diseases and pathologies linked to misfolded proteins. Whether these aspects are independently and fortuitously present in prion ...
DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The advent of high-resolution SNP arra...
A report on the Biology of Genomes meeting held at Cold Spring Harbor Laboratory, NY, USA, 5-9 May 2009.
Cholesterol levels and not inflammatory markers are the major variables that pose a risk of coronary artery disease. Diabetes greatly increases the risk at any cholesterol level. Coronary artery disease and ca...
The message is loud and clear. MicroRNA-96, one in a cluster of three related neurosensory microRNAs, is crucial to the development and maintenance of inner ear hair cells and hearing in mice and humans. Two r...
With the increase in technological capabilities for measuring biological molecules, there is a greater trend to conduct non-biased, discovery-driven studies that collect information on hundreds of molecules in...
Advances in mass spectrometry have had a great impact on the field of proteomics. A major challenge of proteomic analysis has been the elucidation of glycan modifications of proteins in complex proteomes. Glyc...
Allele-specific expression (ASE) is essential for normal development and many cellular processes but, if impaired, can result in disease. ASE is a feature of organisms with genomes consisting of more than one ...
Myeloproliferative neoplasms (MPNs) are a group of closely related stem-cell-derived clonal proliferative diseases. Most cases are sporadic but first-degree relatives of MPN patients have a five- to seven-fold...
Atrial fibrillation (AF) is the most common persistent cardiac dysrhythmia and the number one cause of arrhythmia-related hospitalizations. In addition, AF is a major contributor to stroke. With life expectanc...
A report on the Proteomic Forum 2009 conference, Berlin, Germany, 29 March to 2 April, 2009.
A report on the Genetics and Genomics of Infectious Diseases conference, Singapore, 21-24 March 2009.
A 100 kb region on 9p21.3 harbors two major disease susceptibility loci: one for type 2 diabetes (T2D) and one for coronary heart disease (CHD). The single nucleotide polymorphisms (SNPs) associated with these...
A large amount of experimental data collected over the last decade has shown that genomic organization is very complex and has highlighted the fact that the current set of gene annotations does not fully captu...
Technological advances over the past several years have dramatically reduced the cost of whole-genome sequencing. At the same time, understanding of the functional significance of genetic variation has advance...
Cancer is the most common acquired genetic disease. Great progress has been made in documenting the genetic abnormalities that cause the disease, and in the future each tumor will be subjected to genetic analy...
The availability of serum collections from the Women's Health Initiative (WHI) conjugated equine estrogens (CEE) randomized controlled trial provides an opportunity to test the potential of in-depth quantitati...
Despite large public investments in genome-wide association studies of common human diseases, so far, few gene discoveries have led to applications for clinical medicine or public health. Genome-wide associati...
A brief report on the Perspectives in Stem Cell Proteomics Conference, Hinxton, UK, 22-23 March, 2009.
Rhinovirus infections cause at least 70% of virus-related wheezing exacerbations and cold and flu-like illnesses. Infections are also associated with otitis media, sinusitis and pneumonia. The annual impact of...
Genome-wide association scans are beginning to identify risk alleles for a number of complex diseases and traits. Essential hypertension looked as though it would be an exception to this trend after the Wellco...
It is now becoming generally accepted that a significant amount of human genetic variation is due to structural changes of the genome rather than to base-pair changes in the DNA. As for base-pair changes, know...
A report on the Genomic Disorders conference on Genomic Variation in Health and Disease, Hinxton, UK, 9–11 March, 2009.
A variety of techniques that specifically target human gene sequences for differential capture from a genomic sample, coupled with next-generation, massively parallel DNA sequencing instruments, is rapidly sup...
Although microarray technology allows the investigation of the transcriptomic make-up of a tumor in one experiment, the transcriptome does not completely reflect the underlying biology due to alternative splic...
Though the field has moved with glacial speed, gene therapies have been carried out successfully in patients with bone marrow disorders including immune deficiencies. The field may be poised to move forward mo...
The recent flood of information about new gene variants associated with chronic disease risk from genome-wide association studies has understandably led to enthusiasm that genetic discoveries could reduce dise...
Survival rates from colorectal cancer (CRC) differ dramatically according to the stage of the tumor at diagnosis, with survival rates of 90% for patients with stage I disease but only 49% for those with stage ...
Following the publication of the complete human genomic sequence, the post-genomic era is driven by the need to extract useful information from genomic data. Genomics, transcriptomics, proteomics, metabolomics...
Alzheimer's disease is a progressive neurodegenerative disorder with high prevalence in old age. It is the most common cause of dementia, with a risk reaching 50% after the age of 85 years, and with the increa...
The idiopathic epilepsies are genetically heterogeneous with more than 50 clinical classifications. They are characterized by episodic seizures arising from erratic neuronal discharge in susceptible individual...
Functional genomic studies are dominated by transcriptomic approaches, in part reflecting the vast amount of information that can be obtained, the ability to amplify mRNA and the availability of commercially s...
The extent to which common variants contribute to common phenotypes and disease in humans has important consequences for the future of medical genomics. Two reports have recently clarified this issue for one o...
The inauguration of the Obama administration is likely to enhance the role of genome medicine in clinical care and national economics.
To help overcome the bottlenecks that limit the development of diagnostic and therapeutic products, academic and industrial researchers, patient organizations and charities, and regulatory and funding institut...
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