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[PDF] Top 20 Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests

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Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests

Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests

... www.umr1087.univ-nantes.fr Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of ... Voir le document complet

2

An association test to detect clustered disease-risk rare variants

An association test to detect clustered disease-risk rare variants

... effect of rare vari- ants on complex diseases. As an extension of the “common disease-common variant” para- digm, rare variant studies are necessary to get a more complete insight into ... Voir le document complet

21

Computational and statistical approaches to analyzing variants identified by exome sequencing

Computational and statistical approaches to analyzing variants identified by exome sequencing

... Challenges for exome sequencing applied to complex disease Numerous tests have been developed for analyzing sequencing data (Additional file ...battery of these tests comes at ... Voir le document complet

11

Computational and statistical approaches to analyzing variants identified by exome sequencing

Computational and statistical approaches to analyzing variants identified by exome sequencing

... Challenges for exome sequencing applied to complex disease Numerous tests have been developed for analyzing sequencing data (Additional file ...battery of these tests comes at ... Voir le document complet

11

Association of RBP4 genetic variants with childhood obesity and cardiovascular risk factors

Association of RBP4 genetic variants with childhood obesity and cardiovascular risk factors

... analysis Statistical tools for genotype and haplotype analysis of SNPs (Hardy–Weinberg equilibrium, linkage disequilibrium, genotype/haplotype distributions and association tests) were ... Voir le document complet

8

Evaluation of the association between common genetic variants and breast cancer risk

Evaluation of the association between common genetic variants and breast cancer risk

... 20% of the inherited susceptibility, intermediate-risk alleles in DNA-repair genes increase this proportion by ~5% [6-18], and common lower-risk alleles, of which approximately 100 have been ... Voir le document complet

519

Common genetic variants influence human subcortical brain structures.

Common genetic variants influence human subcortical brain structures.

... Extended Data Figure ...plots of the discovery cohorts to HapMap III reference panels of known ancestry are ...group. In all discovery samples any individuals with non-European ancestry were ... Voir le document complet

35

Comparative study of statistical methods for detecting association with rare variants in exome-resequencing data

Comparative study of statistical methods for detecting association with rare variants in exome-resequencing data

... Genome-wide association studies for complex traits are based on the common disease/common variant (CDCV) and common disease/rare variant (CDRV) ...genome-wide association studies using ... Voir le document complet

8

Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy

Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy

... describe, for the first time, a set of 19 germline genetic variants (Table 2) identified in PML cases ...candidates for development of a PML risk test (Table 4, Figure ... Voir le document complet

15

Statistical gesture models for 3D motion capture from a library of gestures with variants

Statistical gesture models for 3D motion capture from a library of gestures with variants

... subjects of communication gestures (each test video is about 90 ...most of the monocular vision ambiguities can be ...happen in the gesture model space, so heuristic biomechanical constraints, which ... Voir le document complet

13

Statistical analysis of areal quantities in the brain through permutation tests

Statistical analysis of areal quantities in the brain through permutation tests

... corrected for magnetic field inhomogeneities and skull-stripped (Sé- gonne et ...intensities of the neigh- boring voxels. A mass of connected wm voxels is produced for each hemisphere, using a ... Voir le document complet

208

Professional clinical guidelines for rare diseases: methodology

Professional clinical guidelines for rare diseases: methodology

... plan for rare diseases, HAS (French National Authority for Health) was mandated to define a method to develop guidelines for RD - which are called PNDS (National Diagnostic and Treat- ... Voir le document complet

2

Common Genetic Variants Modulate Pathogen-Sensing Responses in Human Dendritic Cells

Common Genetic Variants Modulate Pathogen-Sensing Responses in Human Dendritic Cells

... While genetic association studies have identified alleles that confer disease risk, little is known about how these genetic variants contribute to disease through their effects on specific ... Voir le document complet

20

Excess of rare coding variants in PLD3 in late-but not early-onset Alzheimer's disease

Excess of rare coding variants in PLD3 in late-but not early-onset Alzheimer's disease

... these variants have only been found in individuals with either LOAD 11 or EOAD (this ...size of 1,089 AD cases and an equal number of general population controls would be sufficient to reach ... Voir le document complet

5

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

... Strong association with survival and a link with other causative mutations makes the KCO phenotype particularly attractive for stratification in genetic ...cause of low KCO, we applied ... Voir le document complet

33

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

... Background In the vast majority of the Alzheimer’s disease (AD) cases, the disease is considered as a complex disorder with a high genetic component as part of a multifactorial deter- minism ... Voir le document complet

9

Genetic genealogical models in rare event analysis

Genetic genealogical models in rare event analysis

... that rare sets becomes less ...finding of the right change of ...consists in splitting the state space into a sequence of sub-levels the particle needs to pass before it reaches the ... Voir le document complet

33

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

... challenge of our study was to set appropriate thresholds, in terms of population frequency and pathogenicity prediction, in order to capture likely causal ...identification of ... Voir le document complet

20

Weakly-supervised Symptom Recognition for Rare Diseases in Biomedical Text

Weakly-supervised Symptom Recognition for Rare Diseases in Biomedical Text

... University of Caen Basse-Normandie, Caen, France Abstract. In this paper, we tackle the issue of symptom recognition for rare diseases in biomedical ...combination ... Voir le document complet

13

Significance tests and statistical inequalities for segmentation by region growing on graph

Significance tests and statistical inequalities for segmentation by region growing on graph

... deviance of the noise has been estimated to σ = ...segmentation of small ...sizes of the regions in our merging ...row of Fig. 1 concerns the segmentation of hypo- perfused ... Voir le document complet

9

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