List of works - Steven Gazal

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk

scientific article published on 10 April 2014

Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability

scientific article published on 09 October 2019

Author Correction: Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection

scientific article published on 01 August 2019

Can whole-exome sequencing data be used for linkage analysis?

scientific article published on 15 July 2015

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits

article

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

scientific article

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?

scientific article

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

scientific article published on 03 September 2018

Evolutionary constraint and innovation across hundreds of placental mammals

scientific article published on 28 April 2023

FSuite: exploiting inbreeding in dense SNP chip and exome data

scientific article

Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues.

scientific article published on 18 March 2017

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations

article

Functional disease architectures reveal unique biological role of transposable elements

scientific article published on 06 September 2019

Functionally informed fine-mapping and polygenic localization of complex trait heritability

scientific article published on 16 November 2020

Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition

scientific article published on 24 October 2014

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

scientific article published on 9 April 2018

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

article

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease

scientific article

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

scientific article published on 28 May 2015

High level of inbreeding in final phase of 1000 Genomes Project

scientific article

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

scientific article

Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene

scientific article published on 21 January 2014

Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

scientific article published on 29 September 2022

Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease

scientific article published on 07 December 2020

Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.

scientific article

Juvenile myelomonocytic leukaemia and Noonan syndrome.

scientific article published on 5 August 2014

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.

scientific article published on 12 October 2015

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

scientific article published on 08 June 2020

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

scientific article published on 25 June 2018

Liability threshold modeling of case-control status and family history of disease increases association power

scientific article published on 20 April 2020

Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.

scientific article published on 11 September 2017

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya

scientific article

Low-frequency variant functional architectures reveal strength of negative selection across coding and non-coding annotations

Mixed-model association for biobank-scale datasets

scientific article published on 01 July 2018

Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes

scientific article published in 2022

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

scientific article published in Nature Communications

Reconciling S-LDSC and LDAK functional enrichment estimates

scientific article published on 01 August 2019

Relationship inference from the genetic data on parents or offspring: A comparative study.

scientific article

SPP1 rs9138 variant contributes to the severity of radiological damage in anti-citrullinated protein autoantibody-negative rheumatoid arthritis

scientific article

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

scientific article

The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population

scientific article

List of works by Steven Gazal

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk

Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability

Author Correction: Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection

Can whole-exome sequencing data be used for linkage analysis?

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

Evolutionary constraint and innovation across hundreds of placental mammals

FSuite: exploiting inbreeding in dense SNP chip and exome data

Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues.

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations

Functional disease architectures reveal unique biological role of transposable elements

Functionally informed fine-mapping and polygenic localization of complex trait heritability

Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

High level of inbreeding in final phase of 1000 Genomes Project

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene

Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease

Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.

Juvenile myelomonocytic leukaemia and Noonan syndrome.

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

Liability threshold modeling of case-control status and family history of disease increases association power

Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya

Low-frequency variant functional architectures reveal strength of negative selection across coding and non-coding annotations

Mixed-model association for biobank-scale datasets

Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

Reconciling S-LDSC and LDAK functional enrichment estimates

Relationship inference from the genetic data on parents or offspring: A comparative study.

SPP1 rs9138 variant contributes to the severity of radiological damage in anti-citrullinated protein autoantibody-negative rheumatoid arthritis

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population