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Steven Gazal

Assistant Professor of Population and Public Health Sciences

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Email gazal@usc.edu
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Overview

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 https://gazal-lab.org.

Publications

  • A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children Cell Genom. 2024 Mar 22; 100526. . View in PubMed
  • Genome-wide classification of epigenetic activity reveals regions of enriched heritability in immune-related traits Cell Genom. 2024 Mar 13; 4(3):100508. . View in PubMed
  • Vocal learning-associated convergent evolution in mammalian proteins and regulatory elements Science. 2024 Feb 29; eabn3263. . View in PubMed
  • Rhinovirus infection of airway epithelial cells uncovers the non-ciliated subset as a likely driver of genetic susceptibility to childhood-onset asthma medRxiv. 2024 Feb 06. . View in PubMed
  • Genome-wide classification of epigenetic activity reveals regions of enriched heritability in immune-related traits Cell Genom. 2024 Jan 10; 4(1):100469. . View in PubMed
  • Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection Res Sq. 2023 Dec 15. . View in PubMed
  • Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection medRxiv. 2023 Dec 04. . 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
  • Evolutionary constraint and innovation across hundreds of placental mammals Science. 2023 04 28; 380(6643):eabn3943. . View in PubMed
  • The lingering effects of Neanderthal introgression on human complex traits Elife. 2023 03 20; 12. . 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
  • Insights into mammalian TE diversity through the curation of 248 genome assemblies Science. 2023 04 28; 380(6643):eabn1430. . 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
  • A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics Am J Hum Genet. 2023 11 02; 110(11):1863-1874. . 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
  • A genomic timescale for placental mammal evolution Science. 2023 04 28; 380(6643):eabl8189. . 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
  • 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
  • Three-dimensional genome rewiring in loci with human accelerated regions Science. 2023 04 28; 380(6643):eabm1696. . 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-mediated disease heritability without eQTLs Am J Hum Genet. 2022 03 03; 109(3):405-416. . 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
  • 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
  • Population-specific causal disease effect sizes in functionally important regions impacted by selection Nat Commun. 2021 02 17; 12(1):1098. . 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
  • 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
  • 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
  • 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
  • Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease Nat Commun. 2020 12 07; 11(1):6258. . 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
  • 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
  • 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
  • Extreme Polygenicity of Complex Traits Is Explained by Negative Selection Am J Hum Genet. 2019 09 05; 105(3):456-476. . 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
  • Genes with High Network Connectivity Are Enriched for Disease Heritability Am J Hum Genet. 2019 05 02; 104(5):896-913. . 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
  • Functional disease architectures reveal unique biological role of transposable elements Nat Commun. 2019 09 06; 10(1):4054. . View in PubMed
  • The Genetic Architecture of Chronic Mountain Sickness in Peru Front Genet. 2019; 10:690. . 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
  • Juvenile myelomonocytic leukaemia and Noonan syndrome J Med Genet. 2014 Oct; 51(10):689-97. . 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
  • FSuite: exploiting inbreeding in dense SNP chip and exome data Bioinformatics. 2014 Jul 01; 30(13):1940-1. . 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
  • 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
  • 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

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