Search results for "Variants"

showing 7 items of 227 documents

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

2011

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…

schizophrenia; sequence variants; TCF4Genome-wide association studyTranscription Factor 40302 clinical medicineVRK2 protein humanPolymorphism (computer science)Genotypegenetics [Schizophrenia]NeurograninGenetics (clinical)Schizophrenia; Genotype; Risk; Alleles; Polymorphism Single Nucleotide; Transcription Factors; Humans; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Genetic Predisposition to Disease; Protein-Serine-Threonine Kinases; Genome-Wide Association StudyGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsAssociation Studies ArticlesSingle NucleotideGeneral MedicineTCF4genetics [Transcription Factors]Protein-Serine-Threonine Kinases3. Good healthJRiskGenotypeProtein Serine-Threonine KinasesBiologyPolymorphism Single Nucleotidegenetics [Protein-Serine-Threonine Kinases]Molecular epidemiology [NCEBP 1]03 medical and health sciencesddc:570GeneticsHumansGenetic Predisposition to DiseasePolymorphismAllelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Settore MED/25 - PsichiatriaMolecular BiologyAllelesTCF4Molecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologysequence variantsIntronOdds ratioMolecular biologySchizophreniaTCF4 protein human030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

signaling pathwayGenotypingGenotypeSingle-nucleotide polymorphismGenome-wide association studyBreast NeoplasmsconsortiumBiologyBreast Neoplasms; Case-Control Studies; Cooperative Behavior; Female; Gene-Environment Interaction; Genetic Loci; Genome-Wide Association Study; Genotype; Humans; Meta-Analysis as Topic; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to Disease; GeneticsPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineBreast cancerSDG 3 - Good Health and Well-beingMeta-Analysis as TopicRisk FactorsGenotypecommon variantsexpressionGeneticsmedicineHumansGenetic Predisposition to DiseasePolymorphismCooperative BehaviorgeneGenotypinghormone-related protein030304 developmental biologyGenetic associationGenetics0303 health sciencesBreast cancer susceptibilityCancerSingle Nucleotidemedicine.diseaseconfer susceptibilitysusceptibility loci3. Good health14q24.1 rad51l1TOX3Genetic Loci030220 oncology & carcinogenesisCase-Control Studiesgenome-wide associationFemaleGene-Environment InteractionGenome-Wide Association Study
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Problem Transformation Methods with Distance-Based Learning for Multi-Target Regression

2020

Multi-target regression is a special subset of supervised machine learning problems. Problem transformation methods are used in the field to improve the performance of basic methods. The purpose of this article is to test the use of recently popularized distance-based methods, the minimal learning machine (MLM) and the extreme minimal learning machine (EMLM), in problem transformation. The main advantage of the full data variants of these methods is the lack of any meta-parameter. The experimental results for the MLM and EMLM show promising potential, emphasizing the utility of the problem transformation especially with the EMLM. peerReviewed

the minimal learning machine (MLM) and the extreme minimal learning machine (EMLM)koneoppiminenemphasizing the utility of the problem transformation especially with the EMLM.Multi-target regression is a special subset of supervised machine learning problems. Problem transformation methods are used in the field to improve the performance of basic methods. The purpose of this article is to test the use of recently popularized distance-based methodsin problem transformation. The main advantage of the full data variants of these methods is the lack of any meta-parameter. The experimental results for the MLM and EMLM show promising potential
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A new constructive method of anisotropic continuous materials behavioral laws based on the theory of invariants

2010

theory of invariantsbehavior law[ SPI.MAT ] Engineering Sciences [physics]/Materialsanisotropic material[SPI.MAT] Engineering Sciences [physics]/Materials[SPI.MAT]Engineering Sciences [physics]/Materials
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Do childhood infections affect labour market outcomes in adulthood and, if so, how?

2020

A burgeoning body of literature suggests that poor childhood health leads to adverse health outcomes. lower educational attainment and weaker labour market outcomes in adulthood. We focus on an important but under-researched topic, which is the role played by infection-related hospitalization (IRH) in childhood and its links to labour market outcomes later in life. The participants aged 24-30 years in 2001 N =1706 were drawn from the Young Finns Study, which includes comprehensive registry data on IRHs in childhood at ages 0-18 years. These data are linked to longitudinal registry information on labour market outcomes (2001-2012) and parental background (1980). The estimations were performe…

tulotIMPACT515 PsychologyKansanterveystiede ympäristö ja työterveys - Public health care science environmental and occupational healthChildhood healthLOCIKansantaloustiede - EconomicsVARIANTSinfektiotEducationEXPOSUREMETAANALYSISCONSEQUENCESCARDIOVASCULAR RISKMediationASSOCIATIONNaisten- ja lastentaudit - Gynaecology and paediatricslapsuusRAMADANkoulutusEarnings3121 General medicine internal medicine and other clinical medicineInfection-related hospitalization511 EconomicsHEALTHterveys
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Equilibres divariants entre la vapeur d'eau et les hydrates solides : Caractérisation de la nature de la solution solide, limites du domaine de divar…

1972

National audience; Nous avons récemment proposé (1, 2) deux modèles thermodynamiques pour les équilibres divariants entre la vapeur d'eau et les hydrates salins solides. Le premier postule l'existence d'une solution solide d'insertion d'eau dans le sel, le second postule l'existence d'une solution solide de substitution entre deux hydrates du sel. Le but de ce travail est d'établir un nouveau critère permettant de distinguer les deux modèles à partir de l'expérience et de délimiter le domaine divariant dans chacun des deux cas. Nous supposerons, sauf mention contraire, que la solution d'insertion obéit à la loi de Henry par rapport à l'eau et que la solution de substitution est idéale. Nous…

vapeur d'eausolution solide d'insertion[SPI.GPROC] Engineering Sciences [physics]/Chemical and Process Engineeringsolution solide de substitution[ SPI.GPROC ] Engineering Sciences [physics]/Chemical and Process Engineering[SPI.GPROC]Engineering Sciences [physics]/Chemical and Process Engineeringsolidesloi de HenryEquilibres divariantshydrates
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Genetic analysis of BRCA1 and BRCA2 genes in Sicilian high risk families and functional characterization of BRCA1 variants of uncertain significance …

2014

variants of uncertain significanceSettore MED/06 - Oncologia MedicaBRCA1BRCA2VUS
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