Rare variant
Rare variant association testing in the non-coding genome
... of variant allele ...by rare variants and to explore the common disease multiple rare variants paradigm (Saint Pierre and Génin ...different rare genetic variants located within one or a few ...
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Assessing the Impact of Differential Genotyping Errors on Rare Variant Tests of Association
... analyze rare variant data, regardless of the technology used to generate the variant ...on rare-variant tests of association proposed to date, however further analysis is necessary to ...
11
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
... of rare variants in cases over controls for arrhythmia gene regions, we used the etiological fraction (EF), which in the context of Mendelian disease estimates the proportion of cases with a rare ...
13
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
... a rare variant in APOC3 (rs138326449-A, minor allele frequency ...donor variant is responsible for association signals and is independent of known common ...a rare, large effect variant ...
11
Common and rare variant analysis in early-onset bipolar disorder vulnerability.
... In conclusion, although we did not reach the genome-wide significant threshold in our association study, we report here convergent data between our GWA study on early onset BD, the structural abnormality observed in one ...
9
A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria
... a rare variant with optimal power, more statis- tical power could have improved KCNK5 ...CUBN rare variant with albuminuria, remains unaffected as the meta-analysis for this variant ...
15
Étude d'un variant de la toxine STb produite par Escherichia coli
... and variant STb were adjusted to ...and variant; ~5200 Da) and sulfatide (SFT) (~794 kDa; Sigma, Oakville, ON) was examined using a BIACORE 3000 system (GE Healthcare Bio-Sciences AB, Uppsala, ...
113
Rare Events for Stationary Processes
... Unité de recherche INRIA Lorraine, Technopôle de Nancy-Brabois, Campus scientifique, 615 rue du Jardin Botanique, BP 101, 54600 VILLERS LÈS NANCY Unité de recherche INRIA Rennes, Irisa, [r] ...
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Rare Earth Elements in wetlands
... (2008) Rare earth elements (REE) and yttrium in stream waters, stream sediments, and Fe–Mn oxyhydroxides: fractionation, speciation, and controls over REE + Y patterns in the s[r] ...
59
Chroniques génomiques - Rare is frequent
... [9] , par l’acronyme SNV (pour single nucleotide variant), le terme de snip ou SNP (single nucleotide polymorphism) étant réservé à ceux dont l’allèle mineur a une fréquence supérieure à 5 %. Les snip (ou SNP) ...
4
Liste des posters présentés à RARE 2017
... P19 • Le registre Wilson France aujourd’hui et demain. Nadège Girardot- Tinant, Aurélia Poujois, France Woimant P20 • Syndrome Holt Oram : se construire avec une maladie génétique rare. Élodie Brugallé, Pascal ...
2
The logopenic/phonological variant of primary progressive aphasia
... sure, defined by multiple features of spontaneous language production. The concept was introduced by Goodglass et al. 23 to describe language production in vascular aphasia. Within this framework, a patient with would be ...
10
On the odd-minor variant of Hadwiger's conjecture
... Hamilton Cycle is the special case of Odd H-Expansion where H is a cycle with the same number of vertices as G; Vertex Cover by Triangles is the special case of k Odd Disjoint Cycles whe[r] ...
15
A variant of the Erdős‐Sós conjecture
... If we greedily embed a tree with m edges in such a graph by embedding the vertices in breadth-first order, treating all the children of each vertex as a consecutive block, we see that fo[r] ...
32
Restoration Method for Spatially Variant Blurred Images
... Abstract: Most of existing image restoration techniques suppose that the blur is spatially-invariant. However, various physical phenomena related to the optical instrument properties make that degradations may change in ...
36
Formation d’hydrates sans et avec additif antiagglomérant en variant le débit et la fraction d’eau
... FORMATION D’HYDRATES SANS ET AVEC ADDITIF ANTIAGGLOMÉRANT EN VARIANT LE DÉBIT ET LA FRACTION D’EAU A.M. MELCHUNA a,* , A. CAMEIRAO a , J.M. HERRI a , P. GLENAT b a Ecole Nationale Supérieure des Mines de ...
2
Une présentation rare de craniosténose associée à un crâne lacunaire
... présentation rare de craniosténose associée à un crâne lacunaire i ntRoduction Le crâne lacunaire (CL), également appelé Craniolacunia, Craniofenestrae ou Lückenschä- del, est une entité habituellement associée ...
4
Spatio-Temporal Saliency Based on RARE Model
... people. Globally, we can see in these examples that our approach detects well salient regions. In Fig. 4, the sequences are evaluated with the metric proposed in Sec. 3.2. We can see that the proposed ST- RARE has ...
6
Hamiltonian Flow Simulation of Rare Events
... Hamiltonian flow based Monte Carlo simulations originates from physics have been used in many applications in statistics, engineering for a number of years. However these methods are not widely used in the estimation of ...
17
Un rare témoignage iconographique : les foulons de la Gourjade à Castres
... Enfin, l’inventaire des personnages de cet ensemble ne serait pas complet sans la mention d’un fragment de corps montrant le bras droit, l’épaule et le menton qu’une quatrième figure, e[r] ...
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