Author details

Full Name

Steven Gazal

Affiliation

ORCID

Career Start Year

2011

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37034739	A scalable variational approach to characterize pleiotropic components across thousands of human diseases and complex traits using GWAS summary statistics.	medRxiv	2023
37905038	Ancestry-specific regulatory and disease architectures are likely due to cell-type-specific gene-by-environment interactions.		2023
37879338	A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics.		2023
36939312	The lingering effects of Neanderthal introgression on human complex traits.	Elife	2023
37104599	Evolutionary constraint and innovation across hundreds of placental mammals.	Science	2023
35143757	Partitioning gene-mediated disease heritability without eQTLs.	Am J Hum Genet	2022
36175791	Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics.	Nat Genet	2022
35873673	SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease.	Cell Genomics	2022
35668300	Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity.	Nat Genet	2022
35271803	Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes.	Am J Hum Genet	2022
34582792	An integrated approach to identify environmental modulators of genetic risk factors for complex traits.	Am J Hum Genet	2021
33987664	Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations.	Hum Mol Genet	2021
33655247	A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2.	bioRxiv	2021
33597505	Population-specific causal disease effect sizes in functionally important regions impacted by selection.	Nat Commun	2021
33915569	COVID-19 tissue atlases reveal SARS-CoV-2 pathology and cellular targets.	Nature	2021
34845454	Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics.	bioRxiv	2021
33288751	Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease.	Nature Communications	2020
31595288	Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability.	Hum Mol Genet	2020
32313248	Liability threshold modeling of case-control status and family history of disease increases association power.	Nat Genet	2020
31669095	Shared genetic and experimental links between obesity-related traits and asthma subtypes in UK Biobank.	J Allergy Clin Immunol	2020
33199916	Functionally informed fine-mapping and polygenic localization of complex trait heritability.	Nat Genet	2020
32514122	Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.	Nat Genet	2020
30770844	Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection.	Nat Commun	2019
31809749	Genes with High Network Connectivity Are Enriched for Disease Heritability.	Am J Hum Genet	2019
30595370	Leveraging Polygenic Functional Enrichment to Improve GWAS Power.	Am J Hum Genet	2019
31492842	Functional disease architectures reveal unique biological role of transposable elements.	Nat Commun	2019
31285579	Reconciling S-LDSC and LDAK functional enrichment estimates.	Nature Genetics	2019
31273336	Author Correction: Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.	Nat Genet	2019
30905396	Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species.	American Journal of Human Genetics	2019
31417607	The Genetic Architecture of Chronic Mountain Sickness in Peru.	Frontiers in Genetics	2019
31402091	Extreme Polygenicity of Complex Traits Is Explained by Negative Selection.	Am J Hum Genet	2019
31006511	IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors.	Am J Hum Genet	2019
31051114	Genes with High Network Connectivity Are Enriched for Disease Heritability.	Am J Hum Genet	2019
29359367	Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.	Genes Chromosomes and Cancer	2018
29892013	Mixed-model association for biobank-scale datasets.	Nat Genet	2018
30345907	MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease.	N Engl J Med	2018
30297966	Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.	Nat Genet	2018
30087447	Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.	European Journal of Human Genetics	2018
30177862	Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk.	Nat Genet	2018
29942083	Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits.	Nat Genet	2018
29700474	Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits.	Nat Genet	2018
29632380	Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.	Nat Genet	2018
29071117	Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis.	RMD Open	2017
28343628	Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues.	Am J Hum Genet	2017
28495692	Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.	European Respiratory Journal	2017
28892061	Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.	Nat Genet	2017
26173971	Can whole-exome sequencing data be used for linkage analysis?	European Journal of Human Genetics	2016
26431644	Relationship inference from the genetic data on parents or offspring: A comparative study.	Theoretical Population Biology	2016
24448344	Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene.	Ann Rheum Dis	2015
25303718	Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition.	International Journal of Cancer	2015