 Nicholas Mancuso, PhD
 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.
ORNG Applications Bibliographic
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Walker RL, Ramaswami G, Hartl C, Mancuso N, Gandal MJ, de la Torre-Ubieta L, Pasaniuc B, Stein JL, Geschwind DH. Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. Cell. 2019 Oct 17; 179(3):750-771.e22. PMID: 31626773.
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Hou K, Burch KS, Majumdar A, Shi H, Mancuso N, Wu Y, Sankararaman S, Pasaniuc B. Accurate estimation of SNP-heritability from biobank-scale data irrespective of genetic architecture. Nat Genet. 2019 Aug; 51(8):1244-1251. PMID: 31358995.
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Jung SY, Mancuso N, Papp J, Sobel E, Zhang ZF. 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. PMID: 31246991.
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Major M, Freund MK, Burch KS, Mancuso N, Ng M, Furniss D, Pasaniuc B, Ophoff RA. 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. PMID: 31087417.
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Mancuso N, Freund MK, Johnson R, Shi H, Kichaev G, Gusev A, Pasaniuc B. Probabilistic fine-mapping of transcriptome-wide association studies. Nat Genet. 2019 04; 51(4):675-682. PMID: 30926970.
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Wainberg M, Sinnott-Armstrong N, Mancuso N, Barbeira AN, Knowles DA, Golan D, Ermel R, Ruusalepp A, Quertermous T, Hao K, Björkegren JLM, Im HK, Pasaniuc B, Rivas MA, Kundaje A. Opportunities and challenges for transcriptome-wide association studies. Nat Genet. 2019 04; 51(4):592-599. PMID: 30926968.
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Jung SY, Mancuso N, Yu H, Papp J, Sobel E, Zhang ZF. 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. PMID: 30327367.
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Mancuso N, Gayther S, Gusev A, Zheng W, Penney KL, Kote-Jarai Z, Eeles R, Freedman M, Haiman C, Pasaniuc B. Large-scale transcriptome-wide association study identifies new prostate cancer risk regions. Nat Commun. 2018 10 04; 9(1):4079. PMID: 30287866.
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Freund MK, Burch KS, Shi H, Mancuso N, Kichaev G, Garske KM, Pan DZ, Miao Z, Mohlke KL, Laakso M, Pajukanta P, Pasaniuc B, Arboleda VA. 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. PMID: 30290150.
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Gusev A, Mancuso N, Won H, Kousi M, Finucane HK, Reshef Y, Song L, Safi A, McCarroll S, Neale BM, Ophoff RA, O'Donovan MC, Crawford GE, Geschwind DH, Katsanis N, Sullivan PF, Pasaniuc B, Price AL. Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. Nat Genet. 2018 04; 50(4):538-548. PMID: 29632383.
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Fejzo MS, Sazonova OV, Sathirapongsasuti JF, Hallgrímsdóttir IB, Vacic V, MacGibbon KW, Schoenberg FP, Mancuso N, Slamon DJ, Mullin PM. Placenta and appetite genes GDF15 and IGFBP7 are associated with hyperemesis gravidarum. Nat Commun. 2018 03 21; 9(1):1178. PMID: 29563502.
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Shi H, Mancuso N, Spendlove S, Pasaniuc B. Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits. Am J Hum Genet. 2017 Nov 02; 101(5):737-751. PMID: 29100087.
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Gang SS, Castelletto ML, Bryant AS, Yang E, Mancuso N, Lopez JB, Pellegrini M, Hallem EA. Targeted mutagenesis in a human-parasitic nematode. PLoS Pathog. 2017 Oct; 13(10):e1006675. PMID: 29016680.
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Hellwege JN, Jeff JM, Wise LA, Gallagher CS, Wellons M, Hartmann KE, Jones SF, Torstenson ES, Dickinson S, Ruiz-Narváez EA, Rohland N, Allen A, Reich D, Tandon A, Pasaniuc B, Mancuso N, Im HK, Hinds DA, Palmer JR, Rosenberg L, Denny JC, Roden DM, Stewart EA, Morton CC, Kenny EE, Edwards TL, Velez Edwards DR. A multi-stage genome-wide association study of uterine fibroids in African Americans. Hum Genet. 2017 10; 136(10):1363-1373. PMID: 28836065.
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Brown R, Kichaev G, Mancuso N, Boocock J, Pasaniuc B. Enhanced methods to detect haplotypic effects on gene expression. Bioinformatics. 2017 Aug 01; 33(15):2307-2313. PMID: 28369161.
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Mancuso N, Shi H, Goddard P, Kichaev G, Gusev A, Pasaniuc B. 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. PMID: 28238358.
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Mancuso N, Rohland N, Rand KA, Tandon A, Allen A, Quinque D, Mallick S, Li H, Stram A, Sheng X, Kote-Jarai Z, Easton DF, Eeles RA, Le Marchand L, Lubwama A, Stram D, Watya S, Conti DV, Henderson B, Haiman CA, Pasaniuc B, Reich D. The contribution of rare variation to prostate cancer heritability. Nat Genet. 2016 Jan; 48(1):30-5. PMID: 26569126.
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Mangul S, Wu NC, Mancuso N, Zelikovsky A, Sun R, Eskin E. Accurate viral population assembly from ultra-deep sequencing data. Bioinformatics. 2014 Jun 15; 30(12):i329-37. PMID: 24932001.
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Skums P, Mancuso N, Artyomenko A, Tork B, Mandoiu I, Khudyakov Y, Zelikovsky A. Reconstruction of viral population structure from next-generation sequencing data using multicommodity flows. BMC Bioinformatics. 2013; 14 Suppl 9:S2. PMID: 23902469.
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