Search results for "LOCI"

Report on the second EDNAP collaborative STR exercise

1995

This report describes an inter-laboratory exercise completed on behalf of the European DNA Profiling (EDNAP) group. The exercise is one in a series designed to identify STR loci which could be used for harmonisation between participating European forensic science laboratories. Participants were asked to identify the alleles present in five bloodstains at the STR loci HUMTHO1 and HUMVWFA31/A. Two of the stains were prepared from mixtures of two different blood samples. There were no special instructions and each laboratory was requested to use the methodology normally employed for crime case investigations. All participating laboratories achieved the same results for both loci. In addition, …

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.

2015

Hearing loss and individual differences in normal hearing both have a substantial genetic basis. Although many new genes contributing to deafness have been identified, very little is known about genes/variants modulating the normal range of hearing ability. To fill this gap, we performed a two-stage meta-analysis on hearing thresholds (tested at 0.25, 0.5, 1, 2, 4, 8 kHz) and on pure-tone averages (low-, medium-and high-frequency thresholds grouped) in several isolated populations from Italy and Central Asia (total N = 2636). Here, we detected two genome-wide significant loci close to PCDH20 and SLC28A3 (top hits: rs78043697, P = 4.71E-10 and rs7032430, P = 2.39E-09, respectively). For both…

Selective phenotyping, entropy reduction, and the mastermind game.

2011

Abstract Background With the advance of genome sequencing technologies, phenotyping, rather than genotyping, is becoming the most expensive task when mapping genetic traits. The need for efficient selective phenotyping strategies, i.e. methods to select a subset of genotyped individuals for phenotyping, therefore increases. Current methods have focused either on improving the detection of causative genetic variants or their precise genomic location separately. Results Here we recognize selective phenotyping as a Bayesian model discrimination problem and introduce SPARE (Selective Phenotyping Approach by Reduction of Entropy). Unlike previous methods, SPARE can integrate the information of p…

Genome-wide scan for selection signatures reveals novel insights into the adaptive capacity in local North African cattle

2020

International audience; Natural-driven selection is supposed to have left detectable signatures on the genome of North African cattle which are often characterized by the fixation of genetic variants associated with traits under selection pressure and/or an outstanding genetic differentiation with other populations at particular loci. Here, we investigate the population genetic structure and we provide a first outline of potential selection signatures in North African cattle using single nucleotide polymorphism genotyping data. After comparing our data to African, European and indicine cattle populations, we identified 36 genomic regions using three extended haplotype homozygosity statistic…

Conservatism and novelty in the genetic architecture of adaptation in Heliconius butterflies.

2015

Understanding the genetic architecture of adaptive traits has been at the centre of modern evolutionary biology since Fisher; however, evaluating how the genetic architecture of ecologically important traits influences their diversification has been hampered by the scarcity of empirical data. Now, high-throughput genomics facilitates the detailed exploration of variation in the genome-to-phenotype map among closely related taxa. Here, we investigate the evolution of wing pattern diversity in Heliconius, a clade of neotropical butterflies that have undergone an adaptive radiation for wing-pattern mimicry and are influenced by distinct selection regimes. Using crosses between natural wing-pat…

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

2014

Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for stud…

Monoclinic model shear zones

1998

Abstract Although many ductile shear zones are supposed to have developed by approximately simple shear flow, some must have formed under different conditions. A few types of such ‘non-simple shear zones’ have been proposed in the literature such as transpression-, transtension- and stretching-shear zones. This paper presents a full three-dimensional kinematic model of shear zones with monoclinic flow geometry. Monoclinic shear zone types can be classified according to flow parameters, and according to the geometry and orientation of accumulating finite strain. Modelling of finite strain accumulation shows that a number of unusual and potentially problematic structural features may develop …

Prospective relationship of change in ideal cardiovascular health status and arterial stiffness: the Cardiovascular Risk in Young Finns Study.

2014

Background In 2010, the American Heart Association defined ideal cardiovascular health as the simultaneous presence of 4 favorable health behaviors (nonsmoking, ideal body mass index, physical activity at goal, and dietary pattern that promotes cardiovascular health) and 3 favorable health factors (ideal levels of total cholesterol, blood pressure, and fasting glucose). The association between a change in ideal cardiovascular health status and pulse wave velocity, a surrogate marker of cardiovascular disease, has not been reported. Methods and Results The study cohort consisted of 1143 white adults from the Cardiovascular Risk in Young Finns Study who were followed for 21 years since basel…

Film jako locus (anti-)theologicus

2013

Detecting the chaotic nature of advection in complex river flows

2012

In order to detect signatures of chaotic advection in river surface motion, surface buoys equipped with GPS were deployed in a field experiment in River Danube, Hungary. The buoys were released in the vicinity of groynes where complex mixing processes occur. A detailed analysis of the trajectories was carried out, focusing on the time evolution of the distance between buoy pairs. The analysis included the determination and comparison of local Lyapunov exponents and prediction times of finite-time hyperbolic behaviour, which is related to strong mixing. Despite of the small number of applied buoys we found evidence on Lagrangian chaos in the wake of a groyne field. In order to supplement the…