DNA methylation is associated with downregulation of the organic cation transporter OCT1 (SLC22A1) in human hepatocellular carcinoma.

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：: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：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：:The magnitude of the detrimental effects following in utero alcohol exposure, including fetal alcohol syndrome and other fetal alcohol spectrum disorders (FASD), is globally underestimated. The effects include irreversible cognitive and behavioral disabilities as a result of abnormal brain development, pre- and postna...

journal_title：Genome medicine

authors： Ramsay M

更新日期：2010-04-28 00:00:00

abstract：:Candidate gene association studies, linkage studies and genome-wide association studies have highlighted the role of genetic factors in the development of ischemic stroke. This research started over a decade ago, and can be separated into three major periods of research. In the first wave classic susceptibility marker...

journal_title：Genome medicine

authors： Maasz A,Melegh B

更新日期：2010-09-13 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：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:One of the major challenges in obesity treatment is to explain the high variability in the individual's response to specific dietary and physical activity interventions. With this study, we tested the hypothesis that specific DNA methylation changes reflect individual responsiveness to lifestyle intervention...

journal_title：Genome medicine

authors： Keller M,Yaskolka Meir A,Bernhart SH,Gepner Y,Shelef I,Schwarzfuchs D,Tsaban G,Zelicha H,Hopp L,Müller L,Rohde K,Böttcher Y,Stadler PF,Stumvoll M,Blüher M,Kovacs P,Shai I

更新日期：2020-11-16 00:00:00

abstract：BACKGROUND:Hepatocellular carcinoma (HCC) is the one of the most common cancers and lethal diseases in the world. DNA methylation alteration is frequently observed in HCC and may play important roles in carcinogenesis and diagnosis. METHODS:Using the TCGA HCC dataset, we classified HCC patients into different methylat...

journal_title：Genome medicine

authors： Cheng J,Wei D,Ji Y,Chen L,Yang L,Li G,Wu L,Hou T,Xie L,Ding G,Li H,Li Y

更新日期：2018-05-30 00:00:00

abstract：:The number of metabolites identified in human cerebrospinal fluid (CSF) has steadily increased over the past 5 years, and in this issue of Genome Medicine David Wishart and colleagues provide a comprehensive update that brings the number of metabolites listed in the CSF metabolome database to 476 compounds. There is n...

journal_title：Genome medicine

authors： Schwarz E,Torrey EF,Guest PC,Bahn S

更新日期：2012-04-30 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

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:Chemotherapeutic agents such as anthracyclines and taxanes are commonly used in the neoadjuvant setting. Bevacizumab is an antibody which binds to vascular endothelial growth factor A (VEGFA) and inhibits its receptor interaction, thus obstructing the formation of new blood vessels. METHODS:A phase II rando...

journal_title：Genome medicine

authors： Höglander EK,Nord S,Wedge DC,Lingjærde OC,Silwal-Pandit L,Gythfeldt HV,Vollan HKM,Fleischer T,Krohn M,Schlitchting E,Borgen E,Garred Ø,Holmen MM,Wist E,Naume B,Van Loo P,Børresen-Dale AL,Engebraaten O,Kristensen V

更新日期：2018-11-29 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：:Prenatal diagnosis of fetal aneuploidies and chromosomal anomalies is likely to undergo a profound change in the near future. On the one hand this is mediated by new technical developments, such as chromosomal microarrays, which allow a much more precise delineation of minute sub-microscopic chromosomal aberrancies th...

journal_title：Genome medicine

authors： Hahn S,Jackson LG,Zimmermann BG

更新日期：2010-08-05 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：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：BACKGROUND:Intertumoral heterogeneity represents a significant hurdle to identifying optimized targeted therapies in gastric cancer (GC). To realize precision medicine for GC patients, an actionable gene alteration-based molecular classification that directly associates GCs with targeted therapies is needed. METHODS:A...

journal_title：Genome medicine

authors： Ichikawa H,Nagahashi M,Shimada Y,Hanyu T,Ishikawa T,Kameyama H,Kobayashi T,Sakata J,Yabusaki H,Nakagawa S,Sato N,Hirata Y,Kitagawa Y,Tanahashi T,Yoshida K,Nakanishi R,Oki E,Vuzman D,Lyle S,Takabe K,Ling Y,Okuda

更新日期：2017-10-31 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：BACKGROUND:The R620W variant in protein tyrosine phosphatase non-receptor 22 (PTPN22) is associated with rheumatoid arthritis (RA). The PTPN22 gene has alternatively spliced transcripts and at least two of the splice forms have been confirmed to encode different PTPN22 (LYP) proteins, but detailed information regarding...

journal_title：Genome medicine

authors： Ronninger M,Guo Y,Shchetynsky K,Hill A,Khademi M,Olsson T,Reddy PS,Seddighzadeh M,Clark JD,Lin LL,O'Toole M,Padyukov L

更新日期：2012-01-20 00:00:00

abstract：BACKGROUND:Glioblastoma multiforme, the most common type of primary brain tumor in adults, is driven by cells with neural stem (NS) cell characteristics. Using derivation methods developed for NS cells, it is possible to expand tumorigenic stem cells continuously in vitro. Although these glioblastoma-derived neural ste...

journal_title：Genome medicine

authors： Engström PG,Tommei D,Stricker SH,Ender C,Pollard SM,Bertone P

更新日期：2012-10-09 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 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：BACKGROUND:The apolipoprotein E (APOE) ε4 allele is the strongest genetic risk factor for late onset Alzheimer's disease, whilst the ε2 allele confers protection. Previous studies report differential DNA methylation of APOE between ε4 and ε2 carriers, but associations with epigenome-wide methylation have not previously...

journal_title：Genome medicine

authors： Walker RM,Vaher K,Bermingham ML,Morris SW,Bretherick AD,Zeng Y,Rawlik K,Amador C,Campbell A,Haley CS,Hayward C,Porteous DJ,McIntosh AM,Marioni RE,Evans KL

更新日期：2021-01-04 00:00:00

abstract：BACKGROUND:Profiles of DNA methylation of many tissues relevant in human disease have been obtained from microarrays and are publicly available. These can be used to generate maps of chromatin compartmentalization, demarcating open and closed chromatin across the genome. Additionally, large sets of genome-wide transcri...

journal_title：Genome medicine

authors： Simmonds P,Loomis E,Curry E

更新日期：2017-06-07 00:00:00

abstract：:During COVID-19, diagnostic serological tools and vaccines have been developed. To inform control activities in a post-vaccine surveillance setting, we have developed an online "immuno-analytics" resource that combines epitope, sequence, protein and SARS-CoV-2 mutation analysis. SARS-CoV-2 spike and nucleocapsid prote...

journal_title：Genome medicine

authors： Ward D,Higgins M,Phelan JE,Hibberd ML,Campino S,Clark TG

更新日期：2021-01-07 00:00:00

abstract：:Here, we present the Northeast Asian Reference Database (NARD), including whole-genome sequencing data of 1779 individuals from Korea, Mongolia, Japan, China, and Hong Kong. NARD provides the genetic diversity of Korean (n = 850) and Mongolian (n = 384) ancestries that were not present in the 1000 Genomes Project Phas...

journal_title：Genome medicine

authors： Yoo SK,Kim CU,Kim HL,Kim S,Shin JY,Kim N,Yang JSW,Lo KW,Cho B,Matsuda F,Schuster SC,Kim C,Kim JI,Seo JS

更新日期：2019-10-22 00:00:00

abstract：BACKGROUND:Establishing the cancer type and site of origin is important in determining the most appropriate course of treatment for cancer patients. Patients with cancer of unknown primary, where the site of origin cannot be established from an examination of the metastatic cancer cells, typically have poor survival. H...

journal_title：Genome medicine

authors： Soh KP,Szczurek E,Sakoparnig T,Beerenwinkel N

更新日期：2017-11-28 00:00:00

abstract：:Primary biliary cirrhosis (PBC) is an autoimmune hepatobiliary disease characterized by immune-mediated injury of small and medium-sized bile ducts, eventually leading to liver cirrhosis. Several studies have addressed PBC immunopathology, and the data support an immune activation leading to autoantibodies and autorea...

journal_title：Genome medicine

authors： Selmi C,Torok NJ,Affronti A,Gershwin ME

更新日期：2010-01-26 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