Nicholas Mancuso, PhD

Assistant Professor of Population and Public Health Sciences

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Overview

My research aims to develop novel computational and statistical approaches to understand the genetic etiology of complex diseases. This includes integrating molecular phenotypes (e.g., gene expression, protein abundance) with large-scale genome-wide association studies, characterizing the genetic architecture of complex disease (e.g., rare vs common variation), and quantifying the role of selection in shaping the effect-size distribution for alleles.

Publications

  • Large-scale integrative analysis of juvenile idiopathic arthritis for new insight into its pathogenesis Arthritis Res Ther. 2024 Feb 10; 26(1):47. . View in PubMed
  • Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia Hum Mol Genet. 2024 Jan 23. . View in PubMed
  • A rigorous benchmarking of alignment-based HLA typing algorithms for RNA-seq data bioRxiv. 2024 Jan 16. . View in PubMed
  • Haplotype-aware modeling of cis-regulatory effects highlights the gaps remaining in eQTL data Nat Commun. 2024 Jan 15; 15(1):522. . View in PubMed
  • Tree-based QTL mapping with expected local genetic relatedness matrices Am J Hum Genet. 2023 Dec 07; 110(12):2077-2091. . View in PubMed
  • SuSiE PCA: A scalable Bayesian variable selection technique for principal component analysis iScience. 2023 Nov 17; 26(11):108181. . View in PubMed
  • A likelihood-based framework for demographic inference from genealogical trees bioRxiv. 2023 Oct 13. . View in PubMed
  • Novel insight into the etiology of ischemic stroke gained by integrative multiome-wide association study Hum Mol Genet. 2023 Oct 12. . View in PubMed
  • Fetally-encoded GDF15 and maternal GDF15 sensitivity are major determinants of nausea and vomiting in human pregnancy bioRxiv. 2023 Jun 04. . View in PubMed
  • Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics bioRxiv. 2023 Apr 18. . View in PubMed
  • Tree-based QTL mapping with expected local genetic relatedness matrices bioRxiv. 2023 Apr 08. . View in PubMed
  • Novel insight into the etiology of ischemic stroke gained by integrative transcriptome-wide association study medRxiv. 2023 Mar 31. . 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
  • The motif composition of variable number tandem repeats impacts gene expression Genome Res. 2023 04; 33(4):511-524. . 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
  • Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics Am J Hum Genet. 2023 11 02; 110(11):1853-1862. . View in PubMed
  • Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions J Natl Cancer Inst. 2023 06 08; 115(6):712-732. . View in PubMed
  • twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis Bioinformatics. 2023 05 04; 39(5). . View in PubMed
  • Incorporation of DNA methylation quantitative trait loci (mQTLs) in epigenome-wide association analysis: application to birthweight effects in neonatal whole blood Clin Epigenetics. 2022 Dec 01; 14(1):158. . View in PubMed
  • Genome-wide trans-ethnic meta-analysis identifies novel susceptibility loci for childhood acute lymphoblastic leukemia Leukemia. 2022 03; 36(3):865-868. . View in PubMed
  • Genetically regulated multi-omics study for symptom clusters of posttraumatic stress disorder highlights pleiotropy with hematologic and cardio-metabolic traits Mol Psychiatry. 2022 03; 27(3):1394-1404. . View in PubMed
  • A transcriptome-wide association study identifies novel candidate susceptibility genes for prostate cancer risk Int J Cancer. 2022 01 01; 150(1):80-90. . View in PubMed
  • Multi-ancestry fine-mapping improves precision to identify causal genes in transcriptome-wide association studies Am J Hum Genet. 2022 08 04; 109(8):1388-1404. . View in PubMed
  • Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia Hum Mol Genet. 2022 10 28; 31(21):3741-3756. . View in PubMed
  • Cytomegalovirus proteins, maternal pregnancy cytokines, and their impact on neonatal immune cytokine profiles and acute lymphoblastic leukemogenesis in children Haematologica. 2022 09 01; 107(9):2266-2270. . View in PubMed
  • Interaction between maternal killer immunoglobulin-like receptors and offspring HLAs and susceptibility of childhood ALL Blood Adv. 2022 06 28; 6(12):3756-3766. . View in PubMed
  • A genealogical estimate of genetic relationships Am J Hum Genet. 2022 05 05; 109(5):812-824. . View in PubMed
  • Correction to: Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes Genome Med. 2021 Aug 30; 13(1):139. . View in PubMed
  • Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction Nat Genet. 2021 Mar; 53(3):413. . View in PubMed
  • Multitrait transcriptome-wide association study (TWAS) tests Genet Epidemiol. 2021 09; 45(6):563-576. . View in PubMed
  • Leveraging expression from multiple tissues using sparse canonical correlation analysis and aggregate tests improves the power of transcriptome-wide association studies PLoS Genet. 2021 04; 17(4):e1008973. . View in PubMed
  • Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction Nat Genet. 2021 01; 53(1):65-75. . View in PubMed
  • A Hierarchical Approach Using Marginal Summary Statistics for Multiple Intermediates in a Mendelian Randomization or Transcriptome Analysis Am J Epidemiol. 2021 06 01; 190(6):1148-1158. . View in PubMed
  • Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry J Natl Cancer Inst. 2021 09 04; 113(9):1168-1176. . View in PubMed
  • Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization Nat Commun. 2021 07 27; 12(1):4569. . View in PubMed
  • H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility Am J Hum Genet. 2021 12 02; 108(12):2284-2300. . View in PubMed
  • Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes Genome Med. 2021 08 02; 13(1):123. . View in PubMed
  • Integrative analyses identify susceptibility genes underlying COVID-19 hospitalization medRxiv. 2020 Dec 08. . View in PubMed
  • Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms Cell. 2020 Apr 30; 181(3):745. . View in PubMed
  • Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms Cell. 2020 Apr 16; 181(2):484. . View in PubMed
  • Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data Am J Hum Genet. 2020 06 04; 106(6):805-817. . View in PubMed
  • The Role of Genetically Determined Glycemic Traits in Breast Cancer: A Mendelian Randomization Study Front Genet. 2020; 11:540724. . View in PubMed
  • Integrative analysis of Dupuytren’s disease identifies novel risk locus and reveals a shared genetic etiology with BMI Genet Epidemiol. 2019 09; 43(6):629-645. . View in PubMed
  • Accurate estimation of SNP-heritability from biobank-scale data irrespective of genetic architecture Nat Genet. 2019 08; 51(8):1244-1251. . View in PubMed
  • Opportunities and challenges for transcriptome-wide association studies Nat Genet. 2019 04; 51(4):592-599. . View in PubMed
  • Probabilistic fine-mapping of transcriptome-wide association studies Nat Genet. 2019 04; 51(4):675-682. . View in PubMed
  • Genome-Wide Meta-analysis of Gene-Environmental Interaction for Insulin Resistance Phenotypes and Breast Cancer Risk in Postmenopausal Women Cancer Prev Res (Phila). 2019 01; 12(1):31-42. . View in PubMed
  • Post genome-wide gene-environment interaction study: The effect of genetically driven insulin resistance on breast cancer risk using Mendelian randomization PLoS One. 2019; 14(6):e0218917. . View in PubMed
  • Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease MechanismsCell. 2019 10 17; 179(3):750-771. e22. . View in PubMed
  • Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights Nat Genet. 2018 04; 50(4):538-548. . View in PubMed
  • Placenta and appetite genes GDF15 and IGFBP7 are associated with hyperemesis gravidarum Nat Commun. 2018 03 21; 9(1):1178. . View in PubMed
  • Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits Am J Hum Genet. 2018 10 04; 103(4):535-552. . View in PubMed
  • Large-scale transcriptome-wide association study identifies new prostate cancer risk regions Nat Commun. 2018 10 04; 9(1):4079. . View in PubMed
  • Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits Am J Hum Genet. 2017 Nov 02; 101(5):737-751. . View in PubMed
  • Targeted mutagenesis in a human-parasitic nematode PLoS Pathog. 2017 Oct; 13(10):e1006675. . View in PubMed
  • Enhanced methods to detect haplotypic effects on gene expression Bioinformatics. 2017 Aug 01; 33(15):2307-2313. . View in PubMed
  • Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits Am J Hum Genet. 2017 Mar 02; 100(3):473-487. . View in PubMed
  • A multi-stage genome-wide association study of uterine fibroids in African Americans Hum Genet. 2017 10; 136(10):1363-1373. . View in PubMed
  • The contribution of rare variation to prostate cancer heritability Nat Genet. 2016 Jan; 48(1):30-5. . View in PubMed
  • Accurate viral population assembly from ultra-deep sequencing data Bioinformatics. 2014 Jun 15; 30(12):i329-37. . View in PubMed
  • Reconstruction of viral population structure from next-generation sequencing data using multicommodity flows BMC Bioinformatics. 2013; 14 Suppl 9:S2. . View in PubMed