Killer-cell Immunoglobulin-like Receptor gene linkage and copy number variation analysis by droplet digital PCR.

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：: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：: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：:The pioneering work of Jean Dausset on the HLA system established several principles that were later reflected in the Human Genome Project and contributed to the foundations of predictive, preventive, personalized and participatory (P4) medicine. To effectively develop systems medicine, we should take advantage of the...

journal_title：Genome medicine

authors： Auffray C,Charron D,Hood L

更新日期：2010-08-26 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：: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：: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:While clinical factors such as age, grade, stage, and histological subtype provide physicians with information about patient prognosis, genomic data can further improve these predictions. Previous studies have shown that germline variants in known cancer driver genes are predictive of patient outcome, but no...

journal_title：Genome medicine

authors： Chatrath A,Przanowska R,Kiran S,Su Z,Saha S,Wilson B,Tsunematsu T,Ahn JH,Lee KY,Paulsen T,Sobierajska E,Kiran M,Tang X,Li T,Kumar P,Ratan A,Dutta A

更新日期：2020-02-17 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：: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：: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: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：: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：:Considerable time and effort has been spent in developing analysis and quality assessment methods to allow the use of microarrays in a clinical setting. As is the case for microarrays and other high-throughput technologies, data from new high-throughput sequencing technologies are subject to technological and biologic...

journal_title：Genome medicine

authors： Taub MA,Corrada Bravo H,Irizarry RA

更新日期：2010-12-10 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：: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: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：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：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 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：: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：:Genome-wide association studies have shown unequivocally that common complex disorders have a polygenic genetic architecture and have enabled researchers to identify genetic variants associated with diseases. These variants can be combined into a polygenic risk score that captures part of an individual's susceptibilit...

journal_title：Genome medicine

authors： Lewis CM,Vassos E

更新日期：2020-05-18 00:00:00

abstract：:Chronic infection with hepatitis B virus (HBV) occurs in approximately 6% of the world's population and carriers of the virus are at risk for hepatocellular carcinoma and cirrhosis. Current treatment regimens, which include interferon-alpha and nucleoside/nucleotide analogs, are only partially effective and new treatm...

journal_title：Genome medicine

authors： Weinberg MS,Arbuthnot P

更新日期：2010-04-28 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：: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: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：: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：BACKGROUND:Imiquimod (IMQ) produces a cutaneous phenotype in mice frequently studied as an acute model of human psoriasis. Whether this phenotype depends on strain or sex has never been systematically investigated on a large scale. Such effects, however, could lead to conflicts among studies, while further impacting st...

journal_title：Genome medicine

authors： Swindell WR,Michaels KA,Sutter AJ,Diaconu D,Fritz Y,Xing X,Sarkar MK,Liang Y,Tsoi A,Gudjonsson JE,Ward NL

更新日期：2017-03-09 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