abstract：BACKGROUND:Neisseria meningitidis is a globally important cause of meningitis and septicaemia. Twelve capsular groups of meningococci are known, and quadrivalent vaccines against four of these (A, C, W and Y) are available as plain-polysaccharide and protein-polysaccharide conjugate vaccines. Here we apply contemporary...

journal_title：Genome medicine

authors： O'Connor D,Clutterbuck EA,Thompson AJ,Snape MD,Ramasamy MN,Kelly DF,Pollard AJ

更新日期：2017-01-30 00:00:00

abstract：BACKGROUND:As public health interventions drive parasite populations to elimination, genetic epidemiology models that incorporate population genomics can be powerful tools for evaluating the effectiveness of continued intervention. However, current genetic epidemiology models may not accurately simulate the population ...

journal_title：Genome medicine

authors： Wong W,Griggs AD,Daniels RF,Schaffner SF,Ndiaye D,Bei AK,Deme AB,MacInnis B,Volkman SK,Hartl DL,Neafsey DE,Wirth DF

更新日期：2017-01-24 00:00:00

abstract：BACKGROUND:Allele-specific expression (ASE) is differential expression of each of the two chromosomal alleles of an autosomal gene. We assessed ASE patterns in the human left atrium (LA, n = 62) and paired samples from the left ventricle (LV, n = 76) before and after ischemia, and tested the utility of differential ASE...

journal_title：Genome medicine

authors： Sigurdsson MI,Saddic L,Heydarpour M,Chang TW,Shekar P,Aranki S,Couper GS,Shernan SK,Seidman JG,Body SC,Muehlschlegel JD

更新日期：2016-12-06 00:00:00

abstract：BACKGROUND:Tuberous sclerosis complex (TSC) is a genetic disease characterized by benign tumor growths in multiple organs and neurological symptoms induced by mTOR hyperfunction. Because the molecular pathology is highly complex and the etiology poorly understood, we employed a defined human neuronal model with a singl...

journal_title：Genome medicine

authors： Grabole N,Zhang JD,Aigner S,Ruderisch N,Costa V,Weber FC,Theron M,Berntenis N,Spleiss O,Ebeling M,Yeo GW,Jagasia R,Kiialainen A

更新日期：2016-09-21 00:00:00

abstract：BACKGROUND:Phenotypic changes during cancer progression are associated with alterations in gene expression, which can be exploited to build molecular signatures for tumor stage identification and prognosis. However, it is not yet known whether the relative abundance of transcript isoforms may be informative for clinica...

journal_title：Genome medicine

authors： Trincado JL,Sebestyén E,Pagés A,Eyras E

更新日期：2016-08-17 00:00:00

abstract：BACKGROUND:Expression quantitative trait loci (eQTL) analysis is a powerful method to detect correlations between gene expression and genomic variants and is widely used to interpret the biological mechanism underlying identified genome wide association studies (GWAS) risk loci. Numerous eQTL studies have been performe...

journal_title：Genome medicine

authors： Blauwendraat C,Francescatto M,Gibbs JR,Jansen IE,Simón-Sánchez J,Hernandez DG,Dillman AA,Singleton AB,Cookson MR,Rizzu P,Heutink P

更新日期：2016-06-10 00:00:00

abstract：:The identification of somatic mosaicism in the brain lends a new perspective to our understanding of the role of gene and environment interactions in psychiatric disease risk. Somatic mutations, such as retrotransposon insertions, that are precipitated by modern environmental factors may alter neuronal function and ne...

journal_title：Genome medicine

authors： Bedrosian TA,Linker S,Gage FH

更新日期：2016-05-23 00:00:00

abstract：BACKGROUND:The bromodomain containing 1 (BRD1) gene has been implicated with transcriptional regulation, brain development, and susceptibility to schizophrenia and bipolar disorder. To advance the understanding of BRD1 and its role in mental disorders, we characterized the protein and chromatin interactions of the BRD1...

journal_title：Genome medicine

authors： Fryland T,Christensen JH,Pallesen J,Mattheisen M,Palmfeldt J,Bak M,Grove J,Demontis D,Blechingberg J,Ooi HS,Nyegaard M,Hauberg ME,Tommerup N,Gregersen N,Mors O,Corydon TJ,Nielsen AL,Børglum AD

更新日期：2016-05-03 00:00:00

abstract：:Infections encountered in the cancer setting may arise from intensive cancer treatments or may result from the cancer itself, leading to risk of infections through immune compromise, disruption of anatomic barriers, and exposure to nosocomial (hospital-acquired) pathogens. Consequently, cancer-related infections are u...

journal_title：Genome medicine

authors： Taur Y,Pamer EG

更新日期：2016-04-18 00:00:00

abstract：BACKGROUND:Alzheimer's disease affects ~13% of people in the United States 65 years and older, making it the most common neurodegenerative disorder. Recent work has identified roles for environmental, genetic, and epigenetic factors in Alzheimer's disease risk. METHODS:We performed a genome-wide screen of DNA methylat...

journal_title：Genome medicine

authors： Watson CT,Roussos P,Garg P,Ho DJ,Azam N,Katsel PL,Haroutunian V,Sharp AJ

更新日期：2016-01-19 00:00:00

abstract：:Pathogen genomic analysis is a potentially transformative new approach to the clinical and public-health management of infectious diseases. Health systems investing in this technology will need to build infrastructure and develop policies that ensure genomic information can be generated, shared and acted upon in a tim...

journal_title：Genome medicine

authors： Luheshi LM,Raza S,Peacock SJ

更新日期：2015-12-30 00:00:00

abstract：:Immunoinformatics involves the application of computational methods to immunological problems. Prediction of B- and T-cell epitopes has long been the focus of immunoinformatics, given the potential translational implications, and many tools have been developed. With the advent of next-generation sequencing (NGS) metho...

journal_title：Genome medicine

authors： Backert L,Kohlbacher O

更新日期：2015-11-20 00:00:00

abstract：BACKGROUND:Recent highly publicized cases of premature patient assignment into clinical trials, resulting from non-reproducible omics analyses, have prompted many to call for a more thorough examination of translational omics and highlighted the critical need for transparency and reproducibility to ensure patient safet...

journal_title：Genome medicine

authors： Zheng CL,Ratnakar V,Gil Y,McWeeney SK

更新日期：2015-07-25 00:00:00

abstract：BACKGROUND:The human gut microbiome is associated with the development of colon cancer, and recent studies have found changes in the microbiome in cancer patients compared to healthy controls. Studying the microbial communities in the tumor microenvironment may shed light on the role of host-bacteria interactions in co...

journal_title：Genome medicine

authors： Burns MB,Lynch J,Starr TK,Knights D,Blekhman R

更新日期：2015-06-24 00:00:00

abstract：:The cancer genome is highly complex, with hundreds of point mutations, translocations, and chromosome gains and losses per tumor. To understand the effects of these alterations, precise models are needed. Traditional approaches to the construction of mouse models are time-consuming and laborious, requiring manipulatio...

journal_title：Genome medicine

authors： Mou H,Kennedy Z,Anderson DG,Yin H,Xue W

更新日期：2015-06-09 00:00:00

abstract：:This is an Erratum to Genome Medicine 2013, 5:89, highlighting an error in Table 1 of the original article. Please see related article: http://genomemedicine.com/content/5/9/89.[This corrects the article DOI: 10.1186/gm492.]. ...

journal_title：Genome medicine

authors： Pengelly RJ,Gibson J,Andreoletti G,Collins A,Mattocks CJ,Ennis S

更新日期：2015-05-07 00:00:00

abstract：:Periodontitis is a common inflammatory disease that leads to tooth loss and has been linked to cardiovascular disease and diabetes mellitus. The periodontal microbiome is highly diverse, and metatranscriptomic studies have indicated that the genes that are expressed by the microbiota are more relevant than the microbi...

journal_title：Genome medicine

authors： Wang GP

更新日期：2015-04-27 00:00:00

abstract：:Tumor heterogeneity is of growing importance in the treatment of cancers. Mutational hot spots are prime locations for determining number and proportions of low variant allele frequency (VAF) tumor subclones by next generation sequencing. Low VAF detection is complicated by poor mapping efficiency in regions with high...

journal_title：Genome medicine

authors： Spence JM,Spence JP,Abumoussa A,Burack WR

更新日期：2015-03-12 00:00:00

abstract：BACKGROUND:Long non-coding RNAs (lncRNAs) are emerging as molecules that significantly impact many cellular processes and have been associated with almost every human cancer. Compared to protein-coding genes, lncRNA genes are often associated with transposable elements, particularly with endogenous retroviral elements ...

journal_title：Genome medicine

authors： Gibb EA,Warren RL,Wilson GW,Brown SD,Robertson GA,Morin GB,Holt RA

更新日期：2015-03-05 00:00:00

abstract：:Regenerative medicine has a three-body problem: alignment of the dynamics of the genome, stem cell and patient. Focusing on the rare inherited fragile skin disorder epidermolysis bullosa, three recent innovative studies have used induced pluripotent stem cells and gene correction, revertant mosaicism or genome editing...

journal_title：Genome medicine

authors： Tolar J,McGrath JA

更新日期：2015-02-20 00:00:00

abstract：BACKGROUND:The HHIP gene, encoding Hedgehog interacting protein, has been implicated in chronic obstructive pulmonary disease (COPD) by genome-wide association studies (GWAS), and our subsequent studies identified a functional upstream genetic variant that decreased HHIP transcription. However, little is known about ho...

journal_title：Genome medicine

authors： Lao T,Glass K,Qiu W,Polverino F,Gupta K,Morrow J,Mancini JD,Vuong L,Perrella MA,Hersh CP,Owen CA,Quackenbush J,Yuan GC,Silverman EK,Zhou X

更新日期：2015-02-14 00:00:00

abstract：:The role of ezetimibe in lowering plasma cholesterol has been established; however, controversy remains about its clinical benefit. A recent study utilizes naturally occurring genetic variation within the NPC1-like 1 gene (NPC1L1) to demonstrate the potential for pharmacologic inhibition of the protein to reduce the r...

journal_title：Genome medicine

authors： Corbin LJ,Timpson NJ

更新日期：2015-01-28 00:00:00

abstract：:Whole genome sequencing is increasingly used to study phenotypic variation among infectious pathogens and to evaluate their relative transmissibility, virulence, and immunogenicity. To date, relatively little has been published on how and how many pathogen strains should be selected for studies associating phenotype a...

journal_title：Genome medicine

authors： Farhat MR,Shapiro BJ,Sheppard SK,Colijn C,Murray M

更新日期：2014-11-15 00:00:00

abstract：:As many personal genomes are being sequenced, collaborative analysis of those genomes has become essential. However, analysis of personal genomic data raises important privacy and confidentiality issues. We propose a methodology for federated analysis of sequence variants from personal genomes. Specific base-pair posi...

journal_title：Genome medicine

authors： Ardeshirdavani A,Souche E,Dehaspe L,Van Houdt J,Vermeesch JR,Moreau Y

更新日期：2014-09-17 00:00:00

abstract：:The analysis of the genomic distribution of viral vector genomic integration sites is a key step in hematopoietic stem cell-based gene therapy applications, allowing to assess both the safety and the efficacy of the treatment and to study the basic aspects of hematopoiesis and stem cell biology. Identifying vector int...

journal_title：Genome medicine

authors： Calabria A,Leo S,Benedicenti F,Cesana D,Spinozzi G,Orsini M,Merella S,Stupka E,Zanetti G,Montini E

更新日期：2014-09-03 00:00:00

abstract：:Next-generation sequencing (NGS) methodology allows for a major expansion in current carrier screening tests. NGS testing has been shown to be analytically accurate and cost-effective, but major challenges include educational and counseling issues. ...

journal_title：Genome medicine

authors： Prior TW

更新日期：2014-08-26 00:00:00

abstract：:Large-scale cancer genomic studies have revealed that the genetic heterogeneity of the same type of cancer is greater than previously thought. A key question in cancer genomics is the identification of driver genes. Although existing methods have identified many common drivers, it remains challenging to predict person...

journal_title：Genome medicine

authors： Hou JP,Ma J

更新日期：2014-07-31 00:00:00

abstract：:Psychiatric disorders such as schizophrenia, bipolar disorder, major depressive disorder, attention-deficit/hyperactivity disorder and autism spectrum disorder are common and result in significant morbidity and mortality. Although currently classified into distinct disorder categories, they show clinical overlap and f...

journal_title：Genome medicine

authors： Doherty JL,Owen MJ

更新日期：2014-04-28 00:00:00

abstract：:Selective inhibitors of the kinases BRAF and MEK for the treatment of patients with otherwise refractory BRAF mutant melanoma have demonstrated impressive efficacy, and combination treatment with these agents may prove to be even more effective. However, these drugs are not curative, mainly because of the relatively r...

journal_title：Genome medicine

authors： Settleman J

更新日期：2014-04-28 00:00:00

abstract：:The Killer-cell Immunoglobulin-like Receptor (KIR) gene complex has considerable biomedical importance. Patterns of polymorphism in the KIR region include variability in the gene content of haplotypes and diverse structural arrangements. Droplet digital PCR (ddPCR) was used to identify different haplotype motifs and t...

journal_title：Genome medicine

authors： Roberts CH,Jiang W,Jayaraman J,Trowsdale J,Holland MJ,Traherne JA

更新日期：2014-03-05 00:00:00

abstract：:There are still many open questions in data-analytic research pertaining to biomarker development in the era of personalized/precision medicine and big data. Among them is the question of what constitutes best practice for the extraction of prioritized lists of candidate biomarkers from smaller studies that are 'hypot...

journal_title：Genome medicine

authors： Gaile DP,Miecznikowski JC

更新日期：2013-11-29 00:00:00

abstract：BACKGROUND:Genomics research is becoming increasingly globally connected and collaborative, contesting traditional ethical and legal boundaries between global and local research practice. As well, global data-driven genomics research holds great promise for health discoveries. Yet, paradoxically, current research ethic...

journal_title：Genome medicine

authors： Dove ES,Knoppers BM,Zawati MH

更新日期：2013-11-22 00:00:00

abstract：:Coinciding with the release of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, two recently published molecular genetics analyses suggest large overlaps in genetic liability to schizophrenia, bipolar disorder and major depressive disorder. This indicates that a broader category of sever...

journal_title：Genome medicine

authors： Uher R

更新日期：2013-10-25 00:00:00

abstract：BACKGROUND:Preterm birth confers a high risk of adverse long term health outcomes for survivors, yet the underlying molecular mechanisms are unclear. We hypothesized that effects of preterm birth can be mediated through measurable epigenomic changes throughout development. We therefore used a longitudinal birth cohort ...

journal_title：Genome medicine

authors： Cruickshank MN,Oshlack A,Theda C,Davis PG,Martino D,Sheehan P,Dai Y,Saffery R,Doyle LW,Craig JM

更新日期：2013-10-18 00:00:00

abstract：:With exome sequencing becoming a tool for mutation detection in routine diagnostics there is an increasing need for platform-independent methods of quality control. We present a genotype-weighted metric that allows comparison of all the variant calls of an exome to a high-quality reference dataset of an ethnically mat...

journal_title：Genome medicine

authors： Heinrich V,Kamphans T,Stange J,Parkhomchuk D,Hecht J,Dickhaus T,Robinson PN,Krawitz PM

更新日期：2013-07-31 00:00:00

abstract：:The microbial residents of the human gut are a major factor in the development and lifelong maintenance of health. The gut microbiota differs to a large degree from person to person and has an important influence on health and disease due to its interaction with the human immune system. Its overall composition and mic...

journal_title：Genome medicine

authors： Börnigen D,Morgan XC,Franzosa EA,Ren B,Xavier RJ,Garrett WS,Huttenhower C

更新日期：2013-07-31 00:00:00

abstract：:Osteoporosis, the most common type of bone disease worldwide, is clinically characterized by low bone mineral density (BMD) and increased susceptibility to fracture. Multiple genetic and environmental factors and gene-environment interactions have been implicated in its pathogenesis. Osteoporosis has strong genetic de...

journal_title：Genome medicine

authors： Wu S,Liu Y,Zhang L,Han Y,Lin Y,Deng HW

更新日期：2013-05-29 00:00:00

abstract：BACKGROUND:The advent of direct-to-consumer (DTC) genetic testing (GT) has sparked a number of debates regarding the scientific validity of tests, their broad health and ethical implications for society as well as their legal status. To date, relatively few empirical studies have been published regarding this phenomeno...

journal_title：Genome medicine

authors： Howard HC,Borry P

更新日期：2013-05-22 00:00:00

abstract：:Pancreatic cancer is a highly lethal tumor type for which there are few viable therapeutic options. It is also caused by the accumulation of mutations in a variety of genes. These genetic alterations can be grouped into those that accumulate during pancreatic intraepithelial neoplasia (precursor lesions) and thus are ...

journal_title：Genome medicine

authors： Makohon-Moore A,Brosnan JA,Iacobuzio-Donahue CA

更新日期：2013-03-28 00:00:00

abstract：BACKGROUND:Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases to a single locus through allelic affinity. Here we describe an apparently novel s...

journal_title：Genome medicine

authors： Bainbridge MN,Hu H,Muzny DM,Musante L,Lupski JR,Graham BH,Chen W,Gripp KW,Jenny K,Wienker TF,Yang Y,Sutton VR,Gibbs RA,Ropers HH

更新日期：2013-02-05 00:00:00