Keck School Faculty

Steven Gazal

Steven Gazal

Assistant Professor of Population and Public Health Sciences
Genetic Epidemiology
1450 Biggy Street Health Sciences Campus Los Angeles


A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics Am J Hum Genet. 2023 Nov 02; 110(11):1863-1874. . View in PubMed

Ancestry-specific regulatory and disease architectures are likely due to cell-type-specific gene-by-environment interactions medRxiv. 2023 Oct 21. . View in PubMed

A scalable variational approach to characterize pleiotropic components across thousands of human diseases and complex traits using GWAS summary statistics medRxiv. 2023 Mar 29. . View in PubMed

Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease bioRxiv. 2023 Mar 10. . View in PubMed

Relating enhancer genetic variation across mammals to complex phenotypes using machine learning Science. 2023 04 28; 380(6643):eabm7993. . View in PubMed

The contribution of historical processes to contemporary extinction risk in placental mammals Science. 2023 04 28; 380(6643):eabn5856. . View in PubMed

Insights into mammalian TE diversity through the curation of 248 genome assemblies Science. 2023 04 28; 380(6643):eabn1430. . View in PubMed

Integrating gene annotation with orthology inference at scale Science. 2023 04 28; 380(6643):eabn3107. . View in PubMed

Leveraging base-pair mammalian constraint to understand genetic variation and human disease Science. 2023 04 28; 380(6643):eabn2937. . View in PubMed

The lingering effects of Neanderthal introgression on human complex traits Elife. 2023 03 20; 12. . View in PubMed

Three-dimensional genome rewiring in loci with human accelerated regions Science. 2023 04 28; 380(6643):eabm1696. . View in PubMed

Evolutionary constraint and innovation across hundreds of placental mammals Science. 2023 04 28; 380(6643):eabn3943. . View in PubMed

Mammalian evolution of human cis-regulatory elements and transcription factor binding sites Science. 2023 04 28; 380(6643):eabn7930. . View in PubMed

The functional and evolutionary impacts of human-specific deletions in conserved elements Science. 2023 04 28; 380(6643):eabn2253. . View in PubMed

A genomic timescale for placental mammal evolution Science. 2023 04 28; 380(6643):eabl8189. . View in PubMed

SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease Cell Genom. 2022 Jul 13; 2(7). . View in PubMed

Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics Nat Genet. 2022 10; 54(10):1479-1492. . View in PubMed

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity Nat Genet. 2022 06; 54(6):827-836. . View in PubMed

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores Nat Genet. 2022 04; 54(4):450-458. . View in PubMed

Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes Am J Hum Genet. 2022 04 07; 109(4):692-709. . View in PubMed

Partitioning gene-mediated disease heritability without eQTLs Am J Hum Genet. 2022 03 03; 109(3):405-416. . View in PubMed

Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics bioRxiv. 2021 Nov 23. . View in PubMed

A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2 bioRxiv. 2021 Feb 25. . View in PubMed

COVID-19 tissue atlases reveal SARS-CoV-2 pathology and cellular targets Nature. 2021 07; 595(7865):107-113. . View in PubMed

Methotrexate and rheumatoid arthritis associated interstitial lung disease Eur Respir J. 2021 02; 57(2). . View in PubMed

Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets Nat Commun. 2021 10 18; 12(1):6052. . View in PubMed

Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations Hum Mol Genet. 2021 07 28; 30(16):1521-1534. . View in PubMed

An integrated approach to identify environmental modulators of genetic risk factors for complex traits Am J Hum Genet. 2021 10 07; 108(10):1866-1879. . View in PubMed

Population-specific causal disease effect sizes in functionally important regions impacted by selection Nat Commun. 2021 02 17; 12(1):1098. . View in PubMed

Functionally informed fine-mapping and polygenic localization of complex trait heritability Nat Genet. 2020 12; 52(12):1355-1363. . View in PubMed

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases Nat Genet. 2020 07; 52(7):669-679. . View in PubMed

Liability threshold modeling of case-control status and family history of disease increases association power Nat Genet. 2020 05; 52(5):541-547. . View in PubMed

Shared genetic and experimental links between obesity-related traits and asthma subtypes in UK Biobank J Allergy Clin Immunol. 2020 02; 145(2):537-549. . View in PubMed

Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease Nat Commun. 2020 12 07; 11(1):6258. . View in PubMed

Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability Hum Mol Genet. 2020 05 08; 29(7):1057-1067. . View in PubMed

Genes with High Network Connectivity Are Enriched for Disease Heritability Am J Hum Genet. 2019 Dec 05; 105(6):1302. . View in PubMed

Author Correction: Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection Nat Genet. 2019 Aug; 51(8):1295. . View in PubMed

Reconciling S-LDSC and LDAK functional enrichment estimates Nat Genet. 2019 08; 51(8):1202-1204. . View in PubMed

Extreme Polygenicity of Complex Traits Is Explained by Negative Selection Am J Hum Genet. 2019 09 05; 105(3):456-476. . View in PubMed

The Genetic Architecture of Chronic Mountain Sickness in Peru Front Genet. 2019; 10:690. . View in PubMed

Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species Am J Hum Genet. 2019 04 04; 104(4):611-624. . View in PubMed

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection Nat Commun. 2019 02 15; 10(1):790. . View in PubMed

Functional disease architectures reveal unique biological role of transposable elements Nat Commun. 2019 09 06; 10(1):4054. . View in PubMed

Leveraging Polygenic Functional Enrichment to Improve GWAS Power Am J Hum Genet. 2019 01 03; 104(1):65-75. . View in PubMed

Genes with High Network Connectivity Are Enriched for Disease Heritability Am J Hum Genet. 2019 05 02; 104(5):896-913. . View in PubMed

IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors Am J Hum Genet. 2019 05 02; 104(5):879-895. . View in PubMed

Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma Genes Chromosomes Cancer. 2018 Jun; 57(6):294-303. . View in PubMed

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability Eur J Hum Genet. 2018 12; 26(12):1759-1772. . View in PubMed

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations Nat Genet. 2018 11; 50(11):1600-1607. . View in PubMed

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk Nat Genet. 2018 10; 50(10):1483-1493. . View in PubMed

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits Nat Genet. 2018 07; 50(7):1041-1047. . View in PubMed

Mixed-model association for biobank-scale datasets Nat Genet. 2018 07; 50(7):906-908. . View in PubMed

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits Nat Genet. 2018 05; 50(5):737-745. . View in PubMed

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types Nat Genet. 2018 04; 50(4):621-629. . View in PubMed

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease N Engl J Med. 2018 12 06; 379(23):2209-2219. . View in PubMed

Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection Nat Genet. 2017 Oct; 49(10):1421-1427. . View in PubMed

Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues Am J Hum Genet. 2017 Apr 06; 100(4):605-616. . View in PubMed

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis Eur Respir J. 2017 05; 49(5). . View in PubMed

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; 3(2):e000448. . View in PubMed

Can whole-exome sequencing data be used for linkage analysis? Eur J Hum Genet. 2016 Apr; 24(4):581-6.. View in PubMed

Relationship inference from the genetic data on parents or offspring: A comparative study Theor Popul Biol. 2016 Feb; 107:31-8. . View in PubMed

High level of inbreeding in final phase of 1000 Genomes Project Sci Rep. 2015 Dec 02; 5:17453. . View in PubMed

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network Nat Genet. 2015 Nov; 47(11):1334-40. . View in PubMed

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis Eur Respir J. 2015 Aug; 46(2):474-85. . View in PubMed

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease Brain. 2015 Aug; 138(Pt 8):2347-58. . View in PubMed

Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition Int J Cancer. 2015 May 01; 136(9):2109-19. . View in PubMed

Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene Ann Rheum Dis. 2015 Mar; 74(3):e19. . View in PubMed

SPP1 rs9138 variant contributes to the severity of radiological damage in anti-citrullinated protein autoantibody-negative rheumatoid arthritis Ann Rheum Dis. 2014 Oct; 73(10):1840-3. . View in PubMed

Juvenile myelomonocytic leukaemia and Noonan syndrome J Med Genet. 2014 Oct; 51(10):689-97. . View in PubMed

FSuite: exploiting inbreeding in dense SNP chip and exome data Bioinformatics. 2014 Jul 01; 30(13):1940-1. . View in PubMed

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk Biomed Res Int. 2014; 2014:925716. . View in PubMed

Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III Hum Hered. 2014; 77(1-4):49-62. . View in PubMed

The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population PLoS One. 2013; 8(8):e70621. . View in PubMed

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly Am J Hum Genet. 2012 Dec 07; 91(6):1135-43. . View in PubMed

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed? Hum Hered. 2012; 74(3-4):142-52.. View in PubMed

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya Am J Hum Genet. 2011 Jun 10; 88(6):718-728. . View in PubMed

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? Eur J Hum Genet. 2011 May; 19(5):583-7.. View in PubMed

Steven Gazal is an assistant professor at the Center for Genetic Epidemiology, in the Department of Population and Public Health Sciences at USC Keck School of Medicine. His research focuses on developing and applying statistical methods to understand the genetic basis of human diseases, with expertise in combining population genetics, genetic epidemiology and functional genomics approaches. Prior to his position at Center for Genetic Epidemiology, Steven was a postdoc and a research associate at the Harvard School of Public Health and in the Program in Medical and Population Genetics at the Broad Institute in the group of Alkes Price. Steven obtained his Ph.D. at the Fondation Jean Dausset CEPH, under the guidance of Anne-Louise Leutenegger and Emmanuelle Génin, while working as a statistical geneticist in Paris Hospitals. His current lab website can be found at
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