19 Result(s)
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English
Emmanuelle Genin
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Open AccessCombining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim ...
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Open AccessHow local reference panels improve imputation in French populations
Imputation servers offer the exclusive possibility to harness the largest public reference panels which have been shown to deliver very high precision in the imputation of European genomes. Many studies have n...
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Open AccessExome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do n...
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Open AccessExpanding ACMG variant classification guidelines into a general framework
The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been wide...
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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 AccessAccuracy of heritability estimations in presence of hidden population stratification
The heritability of a trait is the proportion of its variance explained by genetic factors; it has historically been estimated using familial data. However, new methods have appeared for estimating heritabilit...
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Open AccessHigh level of inbreeding in final phase of 1000 Genomes Project
The 1000 Genomes Project provides a unique source of whole genome sequencing data for studies of human population genetics and human diseases. The last release of this project includes more than 2,500 sequence...
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Open AccessGenome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data
Structural variations such as copy number variants (CNV) influence the expression of different phenotypic traits. Algorithms to identify CNVs through SNP-array platforms are available. The ability to evaluate ...
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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...
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Open AccessSelection of SNP subsets for association studies in candidate genes: comparison of the power of different strategies to detect single disease susceptibility locus effects
The recent advances in genoty** and molecular techniques have greatly increased the knowledge of the human genome structure. Millions of polymorphisms are reported and freely available in public databases. A...
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Open AccessImpact of the diagnosis definition on linkage detection
Previous genome scan linkage analyses of the disease Kofendrerd Personality Disorder (KPD) with microsatellites led to detect some regions on chromosomes 1, 3, 5, and 9 that were identical for the three popula...
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Open AccessOn the use of haplotype phylogeny to detect disease susceptibility loci
The cladistic approach proposed by Templeton has been presented as promising for the study of the genetic factors involved in common diseases. This approach allows the joint study of multiple markers within a ...
