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Article
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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Article
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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Chapter and Conference Paper
Robust and Imperceptible Watermarking Scheme for GWAS Data Traceability
This paper proposes the first robust watermarking method of outsourced or shared genomic data in the context of genome-wide association studies (GWAS) with the primary purpose of identifying the individual or ...
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Article
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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Article
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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Article
Heritability: What's the point? What is it not for? A human genetics perspective
In this paper, we explain the concept of heritability and describe the different methods and the genotype–phenotype correspondences used to estimate heritability in the specific field of human genetics. Herita...
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Chapter and Conference Paper
A Hybrid Cloud Deployment Architecture for Privacy-Preserving Collaborative Genome-Wide Association Studies
The increasing availability of sequenced human genomes is enabling health professionals and genomics researchers to well understand the implication of genetic variants in the development of common diseases, no...
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Article
Rare variant association testing in the non-coding genome
The development of next-generation sequencing technologies has opened-up some new possibilities to explore the contribution of genetic variants to human diseases and in particular that of rare variants. Statis...
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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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Article
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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Article
Missing heritability of complex diseases: case solved?
About 10 years ago, after the first large-scale genome-wide association studies (GWAS) were conducted to find genes associated with common complex diseases, investigators were surprised to find that the amount...
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Chapter and Conference Paper
Secure Multilayer Perceptron Based on Homomorphic Encryption
In this work, we propose an outsourced Secure Multilayer Perceptron (SMLP) scheme where privacy and confidentiality of the data and the model are ensured during its training and the classification phases. More...
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Chapter and Conference Paper
Dynamic Watermarking-Based Integrity Protection of Homomorphically Encrypted Databases – Application to Outsourced Genetic Data
In this paper, we propose a dynamic database crypto-watermarking scheme that enables a cloud service provider (CSP) to verify the integrity of encrypted databases outsourced by different users. This scheme tak...
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Article
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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Article
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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Article
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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Chapter
Population Stratification of Rare Variants
Population stratification has been the focus of many recent studies that evidenced allele frequency differences between populations even at fine geographic scales. Patterns of stratification are influenced by ...
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Article
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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Article
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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Article
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.
