Environment-driven somatic mosaicism in brain disorders.

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 neurological traits, increasing the societal prevalence of mental disorders.

journal_name

Genome Med

journal_title

Genome medicine

authors

Bedrosian TA,Linker S,Gage FH

doi

10.1186/s13073-016-0317-9

subject

Has Abstract

pub_date

2016-05-23 00:00:00

pages

58

issue

1

issn

1756-994X

pii

10.1186/s13073-016-0317-9

journal_volume

8

pub_type

杂志文章
  • Genetic relatedness analysis reveals the cotransmission of genetically related Plasmodium falciparum parasites in Thiès, Senegal.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-017-0398-0

    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

  • Genetic and epigenetic insights into fetal alcohol spectrum disorders.

    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

    pub_type: 杂志文章

    doi:10.1186/gm148

    authors: Ramsay M

    更新日期:2010-04-28 00:00:00

  • DNA methylation is associated with downregulation of the organic cation transporter OCT1 (SLC22A1) in human hepatocellular carcinoma.

    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

    pub_type: 杂志文章

    doi:10.1186/gm298

    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

  • Allele-specific expression in the human heart and its application to postoperative atrial fibrillation and myocardial ischemia.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-016-0381-1

    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

  • A Klebsiella pneumoniae ST307 outbreak clone from Germany demonstrates features of extensive drug resistance, hypermucoviscosity, and enhanced iron acquisition.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-020-00814-6

    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

  • Microbiome mediation of infections in the cancer setting.

    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

    pub_type: 杂志文章,评审

    doi:10.1186/s13073-016-0306-z

    authors: Taur Y,Pamer EG

    更新日期:2016-04-18 00:00:00

  • Predictive, preventive, personalized and participatory medicine: back to the future.

    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

    pub_type: 杂志文章

    doi:10.1186/gm178

    authors: Auffray C,Charron D,Hood L

    更新日期:2010-08-26 00:00:00

  • Enabling multiplexed testing of pooled donor cells through whole-genome sequencing.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-018-0541-6

    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

  • Identification of Jun loss promotes resistance to histone deacetylase inhibitor entinostat through Myc signaling in luminal breast cancer.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-018-0597-3

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

    更新日期:2018-11-30 00:00:00

  • Activation of an endogenous retrovirus-associated long non-coding RNA in human adenocarcinoma.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-015-0142-6

    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

  • CRISPR-SONIC: targeted somatic oncogene knock-in enables rapid in vivo cancer modeling.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-019-0627-9

    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

  • Open science versus commercialization: a modern research conflict?

    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

    pub_type: 杂志文章

    doi:10.1186/gm316

    authors: Caulfield T,Harmon SH,Joly Y

    更新日期:2012-02-27 00:00:00

  • Using inactivating mutations to provide insight into drug action.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-015-0130-x

    authors: Corbin LJ,Timpson NJ

    更新日期:2015-01-28 00:00:00

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

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-019-0677-z

    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

  • Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-016-0320-1

    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

  • Use of semantic workflows to enhance transparency and reproducibility in clinical omics.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-015-0202-y

    authors: Zheng CL,Ratnakar V,Gil Y,McWeeney SK

    更新日期:2015-07-25 00:00:00

  • Survey of European clinical geneticists on awareness, experiences and attitudes towards direct-to-consumer genetic testing.

    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

    pub_type: 杂志文章

    doi:10.1186/gm449

    authors: Howard HC,Borry P

    更新日期:2013-05-22 00:00:00

  • The Human Gene Mutation Database: 2008 update.

    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

    pub_type: 杂志文章

    doi:10.1186/gm13

    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

  • VISPA: a computational pipeline for the identification and analysis of genomic vector integration sites.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-014-0067-5

    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

  • The three-body problem of therapy with induced pluripotent stem cells.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-015-0141-7

    authors: Tolar J,McGrath JA

    更新日期:2015-02-20 00:00:00

  • From small studies to precision medicine: prioritizing candidate biomarkers.

    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

    pub_type: 杂志文章

    doi:10.1186/gm507

    authors: Gaile DP,Miecznikowski JC

    更新日期:2013-11-29 00:00:00

  • An epigenome-wide association study of sex-specific chronological ageing.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-019-0693-z

    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

  • Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-020-00785-8

    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

  • Novel insights into the HLA class I immunopeptidome and T-cell immunosurveillance.

    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

    pub_type: 社论,评审

    doi:10.1186/s13073-017-0439-8

    authors: Melief CJM,Kessler JH

    更新日期:2017-05-24 00:00:00

  • MeCP2 mutations: progress towards understanding and treating Rett syndrome.

    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

    pub_type: 信件,评审

    doi:10.1186/s13073-017-0411-7

    authors: Shah RR,Bird AP

    更新日期:2017-02-17 00:00:00

  • The futility of genomic counseling: essential role of electronic health records.

    abstract::Technological advances over the past several years have dramatically reduced the cost of whole-genome sequencing. At the same time, understanding of the functional significance of genetic variation has advanced considerably. The routine generation of whole-genome sequence data for individual patients will soon be suff...

    journal_title:Genome medicine

    pub_type: 社论

    doi:10.1186/gm48

    authors: Belmont J,McGuire AL

    更新日期:2009-05-08 00:00:00

  • Functional profiling of the gut microbiome in disease-associated inflammation.

    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

    pub_type: 杂志文章,评审

    doi:10.1186/gm469

    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

  • Identification of the BRD1 interaction network and its impact on mental disorder risk.

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-016-0308-x

    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

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

    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

    pub_type: 杂志文章

    doi:10.1186/s13073-020-00820-8

    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

  • Stem cell banking: between traceability and identifiability.

    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

    pub_type: 杂志文章

    doi:10.1186/gm194

    authors: Knoppers BM,Isasi R

    更新日期:2010-10-05 00:00:00