Lista de obras - Steven Gazal - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 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?

artículo científico publicado en 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?

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

Evolutionary constraint and innovation across hundreds of placental mammals

artículo científico publicado en 2023

FSuite: exploiting inbreeding in dense SNP chip and exome data

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2015

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

artículo científico publicado en 2015

High level of inbreeding in final phase of 1000 Genomes Project

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2014

Juvenile myelomonocytic leukaemia and Noonan syndrome.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

Mixed-model association for biobank-scale datasets

artículo científico publicado en 2018

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

artículo científico publicado en 2022

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

artículo científico publicado en 2019

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Lista de obras de 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