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Rare variant association testing in the non-coding genome

Human genetics, 2020-11, Vol.139 (11), p.1345-1362

2020

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Expanding ACMG variant classification guidelines into a general framework

Human genomics, 2022-08, Vol.16 (1), p.1-31, Article 31

2022

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Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes

Genetic epidemiology, 2023-09, Vol.47 (6), p.450-460

2023

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Heritability: What's the point? What is it not for? A human genetics perspective

Genetica, 2022-08, Vol.150 (3-4), p.199-208

2022

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The genetic history of France

European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.853-865

2020

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Multiple imputation for competing risks regression with interval-censored data

Journal of statistical computation and simulation, 2016-07, Vol.86 (11), p.2217-2228

2016

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Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis

Haematologica (Roma), 2022-11, Vol.107 (11), p.2725-2731

2022

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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Human genomics, 2024-02, Vol.18 (1), p.21-23, Article 21

2024

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Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

Genes, 2021-03, Vol.12 (4), p.471

2021

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PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis

Genetic epidemiology, 2024-09

2024

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RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis

Genetic epidemiology, 2022-07, Vol.46 (5-6), p.256-265

2022

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Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

PLoS genetics, 2022-09, Vol.18 (9), p.e1009923-e1009923

2022

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The False Dawn of Polygenic Risk Scores for Human Disease Prediction

Journal of personalized medicine, 2022-08, Vol.12 (8), p.1266

2022

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Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses

Genes, 2020-11, Vol.11 (11), p.1349

2020

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Secure Multilayer Perceptron Based on Homomorphic Encryption

Digital Forensics and Watermarking, 2019, p.322-336

2019

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Principals about principal components in statistical genetics

Briefings in bioinformatics, 2019-11, Vol.20 (6), p.2200-2216

2019

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Accuracy of heritability estimations in presence of hidden population stratification

Scientific reports, 2016-05, Vol.6 (1), p.26471-26471, Article 26471

2016

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Rare variant association testing for multicategory phenotype

Genetic epidemiology, 2019-09, Vol.43 (6), p.646-656

2019

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Correction: The genetic history of France

European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.988-988

2020

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MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data

Bioinformatics, 2018-10, Vol.34 (19), p.3396-3398

2018

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Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage

Reproductive biomedicine online, 2021-04, Vol.42 (4), p.789-798

2021

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49th European Mathematical Genetics Meeting (EMGM) 2021

Human heredity, 2020, Vol.85 (2), p.69-100

Génin, Emmanuelle

2020

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A Hybrid Cloud Deployment Architecture for Privacy-Preserving Collaborative Genome-Wide Association Studies

Digital Forensics and Cyber Crime, 2022, Vol.441, p.342-359

2022

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Rare variant association testing in the non-coding genome

Expanding ACMG variant classification guidelines into a general framework

Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes

Heritability: What's the point? What is it not for? A human genetics perspective

The genetic history of France

Multiple imputation for competing risks regression with interval-censored data

Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome

Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis

RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

The False Dawn of Polygenic Risk Scores for Human Disease Prediction

Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses

Secure Multilayer Perceptron Based on Homomorphic Encryption

Principals about principal components in statistical genetics

Accuracy of heritability estimations in presence of hidden population stratification

Rare variant association testing for multicategory phenotype

Correction: The genetic history of France

MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome

Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage

49th European Mathematical Genetics Meeting (EMGM) 2021

A Hybrid Cloud Deployment Architecture for Privacy-Preserving Collaborative Genome-Wide Association Studies

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