9 Result(s)
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English
Medicine & Public Health
Emmanuelle Genin
Article
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Article
Open AccessCorrection: Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation
A correction to this paper has been published and can be accessed via a link at the top of the paper.
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Open AccessWhole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation
The Alzheimer’s Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), am...
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Open AccessIdentification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
This study aims at assessing the burden of rare (minor allele frequency < 1%) predicted damaging variants in the whole exome of 92 bipolar I disorder (BD) patients and 1051 controls of French ancestry. Patient...
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Open AccessAutism risk assessment in siblings of affected children using sex-specific genetic scores
The inheritance pattern in most cases of autism is complex. The risk of autism is increased in siblings of children with autism and previous studies have indicated that the level of risk can be further identif...
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Open AccessGenome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe
Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but extremely severe cutaneous adverse drug reactions in which drug-specific associations with HLA-B alleles were described.
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Open AccessPower comparison of different methods to detect genetic effects and gene-environment interactions
Identifying gene-environment (G × E) interactions has become a crucial issue in the past decades. Different methods have been proposed to test for G × E interactions in the framework of linkage or association ...
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Open AccessDealing with missing phase and missing data in phylogeny-based analysis
We recently described a new method to identify disease susceptibility loci, based on the analysis of the evolutionary relationships between haplotypes of cases and controls. However, haplotypes are often unkno...
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Open AccessEfficiency of multiple imputation to test for association in the presence of missing data
The presence of missing data in association studies is an important problem, particularly with high-density single-nucleotide polymorphism (SNP) maps, because the probability that at least one genotype is miss...
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Open AccessA mixture model approach to multiple testing for the genetic analysis of gene expression
With the availability of very dense genome-wide maps of markers, multiple testing has become a major difficulty for genetic studies. In this context, the false-discovery rate (FDR) and related criteria are wid...
