Search results for " Linkage"
showing 10 items of 174 documents
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
2010
We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 x 10(-8)). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with gen…
The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, …
2001
The proteases of the lectin pathway of complement activation, MASP-1 and MASP-2, are encoded by two separate genes. The MASP1 gene is located on chromosome 3q27, the MASP2 gene on chromosome 1p36.23-31. The genes for the classical complement activation pathway proteases, C1r and C1s, are linked on chromosome 12p13. We have shown that the MASP2 gene encodes two gene products, the 76 kDa MASP-2 serine protease and a plasma protein of 19 kDa, termed MAp19 or sMAP. Both gene products are components of the lectin pathway activation complex. We present the complete primary structure of the human MASP2 gene and the tight cluster that this locus forms with non-complement genes. A comparison of the …
Inheritance patterns of photoperiodic diapause induction in Leptinotarsa decemlineata
2016
Photoperiod is a reliable indicator of season and an important cue that many insects use for phenological synchronization. Undergoing range expansion insects can face a change in the local photoperiod to which they need to resynchronize. Rapid range expansion can be associated with rapid photoperiodic adaptation, which can be associated with intense selection on strongly heritable polygenic traits. Alternatively, it is proposed that, in insects with an XO sex-determination system, genes with large effect residing on the sex chromosome could drive photoperiodic adaptation because the gene or genes are exposed to selection in the sex carrying only a single X-chromosome. The present study seek…
Missing values in deduplication of electronic patient data
2011
Data deduplication refers to the process in which records referring to the same real-world entities are detected in datasets such that duplicated records can be eliminated. The denotation ‘record linkage’ is used here for the same problem.1 A typical application is the deduplication of medical registry data.2 3 Medical registries are institutions that collect medical and personal data in a standardized and comprehensive way. The primary aims are the creation of a pool of patients eligible for clinical or epidemiological studies and the computation of certain indices such as the incidence in order to oversee the development of diseases. The latter task in particular requires a database in wh…
Magnetic Field and Short-Circuit Reactance Calculation of the 3-Phase Transformer with Symmetrical Amorphous Core
2006
Magnetically symmetric, 3- phase transformer has been analysed. For the two variants of the windings, the calculation results have been compared with the measured ones. Magnetic flux density components were calculated in and out of the core. The flux distribution and short-circuit reactance have been verified experimentally and a good agreement has been obtained.
Controlling false match rates in record linkage using extreme value theory
2011
AbstractCleansing data from synonyms and homonyms is a relevant task in fields where high quality of data is crucial, for example in disease registries and medical research networks. Record linkage provides methods for minimizing synonym and homonym errors thereby improving data quality. We focus our attention to the case of homonym errors (in the following denoted as ‘false matches’), in which records belonging to different entities are wrongly classified as equal. Synonym errors (‘false non-matches’) occur when a single entity maps to multiple records in the linkage result. They are not considered in this study because in our application domain they are not as crucial as false matches. Fa…
Work incapacity among family caregivers : a record linkage study
2022
BackgroundFamily caregiving-related physical and mental health problems may lead to work incapacity in employed caregivers. The aim of this study was to quantify sickness absences and disability pensions (SADP) among high-intensity family caregivers available to the labour market compared with a control population.MethodsThe study sample included all individuals in Finland, who had received caregiver’s allowance and were available to the labour market in 2012 (n=16 982) and their controls (n=35 371). Information on the number of sickness absence (spells >10 days) and disability pension (SADP) days and related diagnoses according to ICD-10 were obtained from national registers for the yea…
PVDF based vibration measurements and their correlation with torque estimation in a FOC induction motor drive
2008
This paper presents a study concerning the vibrations generated by an induction motor drive controlled by field oriented control algorithm (FOC). The aim of the study is to identify suitable measurement points and analysis techniques in order to achieve information about vibration generated by an electric drive. Vibrations take origin both by the torque generated by the motor and the motor supply through an inverter, then they are transmitted to neighbouring structures. Torque is estimated on the basis of the estimated flux linkage; vibrations have been both measured and analysed numerically by FEM at two points of the cradle. The numerical and experimental analysis have been carried out fo…
Field‐circuit analysis of construction modifications of a torus‐type PMDC motor
2003
This paper presents the field‐circuit analysis of a disc‐type torus DC motor with permanent magnets. Calculations of the magnetic field are carried out using the finite element method (FEM) in the 3D space. The integral quantities like the ripple‐cogging torque, back electromotive force, flux linkage, self and mutual inductances of the winding are analyzed. The electromagnetic torque is comparatively determined from the Maxwell stress tensor and co‐energy methods. Based on the 3D magnetic field calculations, the lumped‐parameter model of the tested motor is constructed, taking into account an electronic power converter as well. For comparison, various permanent magnet widths and teeth thick…
On the Fallacy of Forward Linkages: A Note in the Light of Recent Results
2009
Following on from de Mesnard’s (2009) radical criticism of the Ghosh supply-driven model, this paper draws the dramatic consequences for the widespread use of forward linkages in input-output analysis applied to regional science: the practice must be abandoned. The arguments are based on three points: (i) it is impossible simultaneously to choose the Leontief model for the backward effects and the Ghosh model for the forward effects; (ii) it is impossible simultaneously to consider a production function of complementary inputs (Leontief) and a production function of perfectly substitutable inputs (Ghosh); and most importantly (iii) price effects and output effects remain inextricably mixed …