Using inactivating mutations to provide insight into drug action.

abstract：BACKGROUND:Studies of cancer mutations have typically focused on identifying cancer driving mutations that confer growth advantage to cancer cells. However, cancer genomes accumulate a large number of passenger somatic mutations resulting from various endogenous and exogenous causes, including normal DNA damage and rep...

journal_title：Genome medicine

authors： Kim YA,Wojtowicz D,Sarto Basso R,Sason I,Robinson W,Hochbaum DS,Leiserson MDM,Sharan R,Vadin F,Przytycka TM

更新日期：2020-05-29 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：: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: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：:The Human Gene Mutation Database (HGMD((R))) is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated with human inherited disease. Here, we summarize the history of the database and its current resources. By December 2008, the database contained over 85,000 different l...

journal_title：Genome medicine

authors： Stenson PD,Mort M,Ball EV,Howells K,Phillips AD,Thomas NS,Cooper DN

更新日期：2009-01-22 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: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：:Neoantigens are newly formed peptides created from somatic mutations that are capable of inducing tumor-specific T cell recognition. Recently, researchers and clinicians have leveraged next generation sequencing technologies to identify neoantigens and to create personalized immunotherapies for cancer treatment. To cr...

journal_title：Genome medicine

authors： Richters MM,Xia H,Campbell KM,Gillanders WE,Griffith OL,Griffith M

更新日期：2019-08-28 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:Mycobacterium tuberculosis resistance to anti-tuberculosis drugs is a major threat to global public health. Whole genome sequencing (WGS) is rapidly gaining traction as a diagnostic tool for clinical tuberculosis settings. To support this informatically, previous work led to the development of the widely use...

journal_title：Genome medicine

authors： Phelan JE,O'Sullivan DM,Machado D,Ramos J,Oppong YEA,Campino S,O'Grady J,McNerney R,Hibberd ML,Viveiros M,Huggett JF,Clark TG

更新日期：2019-06-24 00:00:00

abstract：BACKGROUND:Organic cation transporters (OCTs) determine not only physiological processes but are also involved in the cellular uptake of anticancer agents. Based on microarray analyses in hepatocellular carcinoma (HCC), SLC22A1/OCT1 mRNA seems to be downregulated, but systematic protein expression data are currently mi...

journal_title：Genome medicine

authors： Schaeffeler E,Hellerbrand C,Nies AT,Winter S,Kruck S,Hofmann U,van der Kuip H,Zanger UM,Koepsell H,Schwab M

更新日期：2011-12-23 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：: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: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：:Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain. ...

journal_title：Genome medicine

authors： Shah RR,Bird AP

更新日期：2017-02-17 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：: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：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: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：: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：:Genome-wide association analyses on large patient cohorts are generating large sets of candidate disease genes. This is coupled with the availability of ever-increasing genomic databases and a rapidly expanding repository of biomedical literature. Computational approaches to disease-gene association attempt to harness...

journal_title：Genome medicine

authors： Tiffin N,Andrade-Navarro MA,Perez-Iratxeta C

更新日期：2009-08-07 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:Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has the potential to reflect past interactions between genetic and environmental factors during early development and influence future health outcomes. METHODS:We ...

journal_title：Genome medicine

authors： Mordaunt CE,Jianu JM,Laufer BI,Zhu Y,Hwang H,Dunaway KW,Bakulski KM,Feinberg JI,Volk HE,Lyall K,Croen LA,Newschaffer CJ,Ozonoff S,Hertz-Picciotto I,Fallin MD,Schmidt RJ,LaSalle JM

更新日期：2020-10-14 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：: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：:Recent studies have demonstrated that network approaches are highly appropriate tools for understanding the extreme complexity of the aging process. Moreover, the generality of the network concept helps to define and study the aging of technological and social networks and ecosystems, which may generate novel concepts...

journal_title：Genome medicine

authors： Simkó GI,Gyurkó D,Veres DV,Nánási T,Csermely P

更新日期：2009-09-28 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：: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: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：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