NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants.

abstract：:The microbial residents of the human gut are a major factor in the development and lifelong maintenance of health. The gut microbiota differs to a large degree from person to person and has an important influence on health and disease due to its interaction with the human immune system. Its overall composition and mic...

journal_title：Genome medicine

authors： Börnigen D,Morgan XC,Franzosa EA,Ren B,Xavier RJ,Garrett WS,Huttenhower C

更新日期：2013-07-31 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：:Tumor heterogeneity is of growing importance in the treatment of cancers. Mutational hot spots are prime locations for determining number and proportions of low variant allele frequency (VAF) tumor subclones by next generation sequencing. Low VAF detection is complicated by poor mapping efficiency in regions with high...

journal_title：Genome medicine

authors： Spence JM,Spence JP,Abumoussa A,Burack WR

更新日期：2015-03-12 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：: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：: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：: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：: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：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：BACKGROUND:A comprehensive understanding of the pre-existing genetic variation in genes associated with antibiotic resistance in the Mycobacterium tuberculosis complex (MTBC) is needed to accurately interpret whole-genome sequencing data for genotypic drug susceptibility testing (DST). METHODS:We investigated mutation...

journal_title：Genome medicine

authors： Merker M,Kohl TA,Barilar I,Andres S,Fowler PW,Chryssanthou E,Ängeby K,Jureen P,Moradigaravand D,Parkhill J,Peacock SJ,Schön T,Maurer FP,Walker T,Köser C,Niemann S

更新日期：2020-03-06 00:00:00

abstract：BACKGROUND:Advanced age is associated with cognitive and physical decline and is a major risk factor for a multitude of disorders. There is also a gap in life expectancy between males and females. DNA methylation differences have been shown to be associated with both age and sex. Here, we investigate age-by-sex differe...

journal_title：Genome medicine

authors： McCartney DL,Zhang F,Hillary RF,Zhang Q,Stevenson AJ,Walker RM,Bermingham ML,Boutin T,Morris SW,Campbell A,Murray AD,Whalley HC,Porteous DJ,Hayward C,Evans KL,Chandra T,Deary IJ,McIntosh AM,Yang J,Visscher PM,McRa

更新日期：2019-12-31 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 anticonvulsant carbamazepine has a high incidence of cutaneous adverse drug reactions. A recent prospective clinical trial in Taiwan has indicated that HLA-B*1502 screening will reduce the incidence of life-threatening adverse reactions to carbamazepine, while a genome-wide association study has identified the HLA...

journal_title：Genome medicine

authors： Mushiroda T,Nakamura Y

更新日期：2011-05-30 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：:CRISPR/Cas9 has revolutionized cancer mouse models. Although loss-of-function genetics by CRISPR/Cas9 is well-established, generating gain-of-function alleles in somatic cancer models is still challenging because of the low efficiency of gene knock-in. Here we developed CRISPR-based Somatic Oncogene kNock-In for Cance...

journal_title：Genome medicine

authors： Mou H,Ozata DM,Smith JL,Sheel A,Kwan SY,Hough S,Kucukural A,Kennedy Z,Cao Y,Xue W

更新日期：2019-04-16 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：: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：: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：: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：: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: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：:Advances in mass spectrometry have allowed the high-throughput quantitative identification of human leukocyte antigen (HLA) class I ligands, and recent studies have reported on the breadth and diversity of the HLA class I immunopeptidome. These findings have far-reaching implications for immunosurveillance by T cells ...

journal_title：Genome medicine

authors： Melief CJM,Kessler JH

更新日期：2017-05-24 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：: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:Metabolomics, the non-targeted interrogation of small molecules in a biological sample, is an ideal technology for identifying diagnostic biomarkers. Current tissue extraction protocols involve sample destruction, precluding additional uses of the tissue. This is particularly problematic for high value sampl...

journal_title：Genome medicine

authors： Brown MV,McDunn JE,Gunst PR,Smith EM,Milburn MV,Troyer DA,Lawton KA

更新日期：2012-04-30 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：BACKGROUND:For circadian medicine to influence health, such as when to take a drug or undergo a procedure, a biomarker of molecular clock phase is required--one that is easily measured and generalizable across a broad population. It is not clear that any circadian biomarker yet satisfies these criteria. METHODS:We ana...

journal_title：Genome medicine

authors： Wu G,Ruben MD,Francey LJ,Smith DF,Sherrill JD,Oblong JE,Mills KJ,Hogenesch JB

更新日期：2020-08-21 00:00:00

abstract：:The identification of somatic mosaicism in the brain lends a new perspective to our understanding of the role of gene and environment interactions in psychiatric disease risk. Somatic mutations, such as retrotransposon insertions, that are precipitated by modern environmental factors may alter neuronal function and ne...

journal_title：Genome medicine

authors： Bedrosian TA,Linker S,Gage FH

更新日期：2016-05-23 00:00:00

abstract：BACKGROUND:Long non-coding RNAs (lncRNAs) are emerging as molecules that significantly impact many cellular processes and have been associated with almost every human cancer. Compared to protein-coding genes, lncRNA genes are often associated with transposable elements, particularly with endogenous retroviral elements ...

journal_title：Genome medicine

authors： Gibb EA,Warren RL,Wilson GW,Brown SD,Robertson GA,Morin GB,Holt RA

更新日期：2015-03-05 00:00:00

abstract：:National and international public-private partnerships, consortia, and government initiatives are underway to collect and share genomic, personal, and healthcare data on a massive scale. Ideally, these efforts will contribute to the creation of a medical information commons (MIC), a comprehensive data resource that is...

journal_title：Genome medicine

authors： Deverka PA,Majumder MA,Villanueva AG,Anderson M,Bakker AC,Bardill J,Boerwinkle E,Bubela T,Evans BJ,Garrison NA,Gibbs RA,Gentleman R,Glazer D,Goldstein MM,Greely H,Harris C,Knoppers BM,Koenig BA,Kohane IS,La Rosa S,

更新日期：2017-09-22 00:00:00