Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease.

abstract：:Fecal microbiota transplantation (FMT) has demonstrated efficacy in treating inflammatory bowel diseases and irritable bowel syndrome in an increasing number of randomized controlled trials. Recently published data gives striking insights into the factors associated with FMT success paving the road for the use of prec...

journal_title：Genome medicine

authors： Benech N,Sokol H

更新日期：2020-06-30 00:00:00

abstract：:A report on the Keystone Symposium 'Complex Traits: Genomics and Computational approaches', Breckenridge, Colorado, USA, 20-25 February 2012. ...

journal_title：Genome medicine

authors： Stranger BE,Björkegren J,Dolan ME,Ritchie MD

更新日期：2012-03-30 00:00:00

abstract：BACKGROUND:Evidence for genetic contribution to complex diseases is described by recurrence risks to relatives of diseased individuals. Genome-wide association studies allow a description of the genetics of the same diseases in terms of risk loci, their effects and allele frequencies. To reconcile the two descriptions ...

journal_title：Genome medicine

authors： Wray NR,Goddard ME

更新日期：2010-02-02 00:00:00

abstract：:Cutaneous malignancies, especially malignant melanoma, exhibit great genetic heterogeneity. As a result, some individuals and families have particularly increased risk due to genetic predisposition to the disease. The susceptibility alleles range from rarely occurring, heritable, high-risk variants to ubiquitously occ...

journal_title：Genome medicine

authors： Udayakumar D,Tsao H

更新日期：2009-10-27 00:00:00

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: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：UNLABELLED:Bibliographic records in the PubMed database of biomedical literature are annotated with Medical Subject Headings (MeSH) by curators, which summarize the content of the articles. Two recent publications explain how to generate profiles of MeSH terms for a set of bibliographic records and to use them to defin...

journal_title：Genome medicine

authors： Andrade-Navarro MA

更新日期：2012-10-30 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：: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：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：: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:Antibiotic-resistant Klebsiella pneumoniae are a major cause of hospital- and community-acquired infections, including sepsis, liver abscess, and pneumonia, driven mainly by the emergence of successful high-risk clonal lineages. The K. pneumoniae sequence type (ST) 307 lineage has appeared in several differe...

journal_title：Genome medicine

authors： Heiden SE,Hübner NO,Bohnert JA,Heidecke CD,Kramer A,Balau V,Gierer W,Schaefer S,Eckmanns T,Gatermann S,Eger E,Guenther S,Becker K,Schaufler K

更新日期：2020-12-09 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：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:Myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML) are characterised by abnormal epigenetic repression and differentiation of bone marrow haematopoietic stem cells (HSCs). Drugs that reverse epigenetic repression, such as 5-azacytidine (5-AZA), induce haematological improvement in half of trea...

journal_title：Genome medicine

authors： Kazachenka A,Young GR,Attig J,Kordella C,Lamprianidou E,Zoulia E,Vrachiolias G,Papoutselis M,Bernard E,Papaemmanuil E,Kotsianidis I,Kassiotis G

更新日期：2019-12-23 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:Despite the increasing recognition that microbial communities within the human body are linked to health, we have an incomplete understanding of the environmental and molecular interactions that shape the composition of these communities. Although host genetic factors play a role in these interactions, these...

journal_title：Genome medicine

authors： Kolde R,Franzosa EA,Rahnavard G,Hall AB,Vlamakis H,Stevens C,Daly MJ,Xavier RJ,Huttenhower C

更新日期：2018-01-29 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：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：: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:Cigarette smoking is well-known to associate with accelerated skin aging as well as cardiovascular disease and lung cancer, in large part due to oxidative stress. Because metabolites are downstream of genetic variation, as well as transcriptional changes and post-translational modifications of proteins, they...

journal_title：Genome medicine

authors： Spitale RC,Cheng MY,Chun KA,Gorell ES,Munoz CA,Kern DG,Wood SM,Knaggs HE,Wulff J,Beebe KD,Chang AL

更新日期：2012-02-23 00:00:00

abstract：:Aberrant DNA methylation, in particular promoter hypermethylation and transcriptional silencing of tumor suppressor genes, has an important role in the development of many human cancers, including renal cell carcinoma (RCC). Indeed, apart from mutations in the well studied von Hippel-Lindau gene (VHL), the mutation fr...

journal_title：Genome medicine

authors： Morris MR,Maher ER

更新日期：2010-09-03 00:00:00

abstract：BACKGROUND:Enterococcus faecium is a commensal of the gastrointestinal tract of animals and humans but also a causative agent of hospital-acquired infections. Resistance against glycopeptides and to vancomycin has motivated the inclusion of E. faecium in the WHO global priority list. Vancomycin resistance can be confer...

journal_title：Genome medicine

authors： Arredondo-Alonso S,Top J,Corander J,Willems RJL,Schürch AC

更新日期：2021-01-20 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 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：:Stem cell banks are increasingly seen as an essential resource of biological materials for both basic and translational research. Stem cell banks support transnational access to quality-controlled and ethically sourced stem cell lines from different origins and of varying grades. According to the Organisation for Econ...

journal_title：Genome medicine

authors： Knoppers BM,Isasi R

更新日期：2010-10-05 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：:Accurate interpretation of gene testing is a key component in customizing patient therapy. Where confirming evidence for a gene variant is lacking, computational prediction may be employed. A standardized framework, however, does not yet exist for quantitative evaluation of disease association for uncertain or novel g...

journal_title：Genome medicine

authors： Crockett DK,Ridge PG,Wilson AR,Lyon E,Williams MS,Narus SP,Facelli JC,Mitchell JA

更新日期：2012-05-28 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：: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