Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeutics.

abstract：:The zebrafish model is rapidly gaining prominence in the study of development, hematopoiesis, and disease. The zebrafish provides distinct advantages over other vertebrate models during early embryonic development by producing transparent, externally fertilized embryos. Embryonic zebrafish are easily visualized and ma...

journal_title：Genome medicine

authors： Martin CS,Moriyama A,Zon LI

更新日期：2011-12-29 00:00:00

abstract：BACKGROUND:Precision oncology involves analysis of individual cancer samples to understand the genes and pathways involved in the development and progression of a cancer. To improve patient care, knowledge of diagnostic, prognostic, predisposing, and drug response markers is essential. Several knowledgebases have been ...

journal_title：Genome medicine

authors： Lever J,Jones MR,Danos AM,Krysiak K,Bonakdar M,Grewal JK,Culibrk L,Griffith OL,Griffith M,Jones SJM

更新日期：2019-12-03 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: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: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：:Systems biology has matured considerably as a discipline over the last decade, yet some of the key challenges separating current research efforts in systems biology and clinically useful results are only now becoming apparent. As these gaps are better defined, the new discipline of systems medicine is emerging as a tr...

journal_title：Genome medicine

authors： Clermont G,Auffray C,Moreau Y,Rocke DM,Dalevi D,Dubhashi D,Marshall DR,Raasch P,Dehne F,Provero P,Tegner J,Aronow BJ,Langston MA,Benson M

更新日期：2009-09-29 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：: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：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：: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：BACKGROUND:Efforts to improve research outcomes have resulted in genomic researchers being confronted with complex and seemingly contradictory instructions about how to perform their tasks. Over the past decade, there has been increasing pressure on university researchers to commercialize their work. Concurrently, they...

journal_title：Genome medicine

authors： Caulfield T,Harmon SH,Joly Y

更新日期：2012-02-27 00:00:00

abstract：BACKGROUND:Based on promising phase II data, the histone deacetylase inhibitor entinostat is in phase III trials for patients with metastatic estrogen receptor-positive breast cancer. Predictors of sensitivity and resistance, however, remain unknown. METHODS:A total of eight cell lines and nine mouse models of breast ...

journal_title：Genome medicine

authors： Tanioka M,Mott KR,Hollern DP,Fan C,Darr DB,Perou CM

更新日期：2018-11-30 00:00:00

abstract：BACKGROUND:The advent of personalized medicine requires robust, reproducible biomarkers that indicate which treatment will maximize therapeutic benefit while minimizing side effects and costs. Numerous molecular signatures have been developed over the past decade to fill this need, but their validation and up-take into...

journal_title：Genome medicine

authors： Starmans MH,Pintilie M,John T,Der SD,Shepherd FA,Jurisica I,Lambin P,Tsao MS,Boutros PC

更新日期：2012-11-12 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：BACKGROUND:Retinoid therapy is widely employed in clinical oncology to differentiate malignant cells into their more benign counterparts. However, certain high-risk cohorts, such as patients with MYCN-amplified neuroblastoma, are innately resistant to retinoid therapy. Therefore, we employed a precision medicine approa...

journal_title：Genome medicine

authors： Duffy DJ,Krstic A,Halasz M,Schwarzl T,Konietzny A,Iljin K,Higgins DG,Kolch W

更新日期：2017-02-10 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：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：: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：:For almost three decades, Huntington's disease has been a prototype for the application of genetic strategies to human disease. HD, the Huntington's disease gene, was the first autosomal defect mapped using only DNA markers, a finding in 1983 that helped to spur similar studies in many other disorders and contributed ...

journal_title：Genome medicine

authors： Gusella JF,MacDonald ME

更新日期：2009-08-21 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: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:Clinical laboratory (lab) tests are used in clinical practice to diagnose, treat, and monitor disease conditions. Test results are stored in electronic health records (EHRs), and a growing number of EHRs are linked to patient DNA, offering unprecedented opportunities to query relationships between genetic ri...

journal_title：Genome medicine

authors： Dennis JK,Sealock JM,Straub P,Lee YH,Hucks D,Actkins K,Faucon A,Feng YA,Ge T,Goleva SB,Niarchou M,Singh K,Morley T,Smoller JW,Ruderfer DM,Mosley JD,Chen G,Davis LK

更新日期：2021-01-13 00:00:00

abstract：:We describe a method that enables the multiplex screening of a pool of many different donor cell lines. Our method accurately predicts each donor proportion from the pool without requiring the use of unique DNA barcodes as markers of donor identity. Instead, we take advantage of common single nucleotide polymorphisms,...

journal_title：Genome medicine

authors： Chan Y,Chan YK,Goodman DB,Guo X,Chavez A,Lim ET,Church GM

更新日期：2018-04-19 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：: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 institutions should redefine the basis for sharing the knowledge collected in large-scale clinical and experimental st...

journal_title：Genome medicine

authors： Auffray C

更新日期：2009-03-04 00:00:00

abstract：:Considerable progress has been made in identifying genetic risk factors for idiosyncratic adverse drug reactions in the past 30 years. These reactions can affect various tissues and organs, including liver, skin, muscle and heart, in a drug-dependent manner. Using both candidate gene and genome-wide association studie...

journal_title：Genome medicine

authors： Daly AK

更新日期：2013-01-29 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 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：: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