1. 
 Thompson, B.A., et al.
(författare)

Application of a 5tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locusspecific database
 2014

Ingår i: Nature Genetics.  : Nature Publishing Group.  10614036 . 15461718. ; 46:2, s. 107115

Tidskriftsartikel (refereegranskat)abstract
 The clinical classification of hereditary sequence variants identified in diseaserelated genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndromeassociated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This largescale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locusspecific databases. © 2014 Nature America, Inc.


2. 
 Qu, L. X., et al.
(författare)

Quantitative numerical analysis of flow past a circular cylinder at Reynolds number between 50 and 200
 2013

Ingår i: Journal of Fluids and Structures.  : Elsevier.  10958622 . 08899746. ; 39, s. 347370

Tidskriftsartikel (refereegranskat)abstract
 Results of numerical simulations are presented for flow past a stationary circular cylinder at low Reynolds numbers (Re=50200). The simulations were carried out using a finitevolume code employing a fractional step method with secondorder accuracy in both space and time. A sensitivity study on numerical parameters concerning the domain size, grid independence and time step resolution was carried out in detail for Re=100. Global timeaveraged results on force coefficients, nondimensional velocities and pressures, including their corresponding r.m.s. values, as well as various quantities related to the separation and vortex shedding characteristics are presented. A nonmonotonous streamwise velocity recovery in the intermediate wake is observed for Re > 50, a phenomenon that has been grossly overlooked in the past. There are two plateaus along the wake centerline, in particular for Re=200. The first, which is the most distinct, ranges from about x=9 to x=16 at a wake deficit velocity of 0.38, x being counted in diameters behind the cylinder axis; the second one appears from x=25 to x=28 at a wake deficit velocity of 0.54. This phenomenon seems to be related to an associated changeover in the orientation of the von Karman vortices and the merging trends, especially for Re=200 beyond x=25, as observed from instantaneous vorticity fields. Threedimensional simulations using spanwise lengths of 10 and 12 (diameters) were carried out at Re=200. After a long initial phase with regular threedimensional mode A flow features increasing very slowly in amplitude, the flow went into a state with distinct pulsating forces acting on the cylinder, the pulsations being seemingly randomly localized across the cylinder span. In this second, much more chaotic, flow state, the timeaveraged results were in agreement with previous experiments and with parts of previous numerical studies.


3. 
 Ma, J.M., et al.
(författare)

A low Reynolds number variant of partiallyaveraged NavierStokes model for turbulence
 2011

Ingår i: International Journal of Heat and Fluid Flow.  0142727X . 18792278. ; 32:3, s. 652669

Tidskriftsartikel (refereegranskat)abstract
 A low Reynolds number (LRN) formulation based on the Partially Averaged NavierStokes (PANS) modelling method is presented, which incorporates improved asymptotic representation in nearwall turbulence modelling. The effect of nearwall viscous damping can thus be better accounted for in simulations of wallbounded turbulent flows. The proposed LRN PANS model uses an LRN kepsilon model as the base model and introduces directly its model functions into the PANS formulation. As a result, the inappropriate walllimiting behavior inherent in the original PANS model is corrected. An interesting feature of the PANS model is that the turbulent Prandtl numbers in the k and epsilon equations are modified compared to the base model. It is found that this modification has a significant effect on the modelled turbulence. The proposed LRN PANS model is scrutinized in computations of decaying grid turbulence, turbulent channel flow and periodic hill flow, of which the latter has been computed at two different Reynolds numbers of Re = 10,600 and 37,000. In comparison with available DNS, LES or experimental data, the LRN PANS model produces improved predictions over the standard PANS model, particularly in the nearwall region and for resolved turbulence statistics. Furthermore, the LRN PANS model gives similar or better results  at a reduced CPU time  as compared to the Dynamic Smagorinsky model.


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