Summary
I am currently a Lecturer in Computational Epidemiology and Biostatistics at Faculty of Medicine at Imperial College. I am passionate about analytical, data-driven approaches to solve problems in healthcare.
background
My background is in Mathematics, for which I gained a BSc (University of Torino, Italy) and an MSc (University of Trieste, Italy) with a thesis on partial differential equations. After completing my formal education, I sought for opportunities to work on applied computational projects and opted for a PhD in Statistical Genomics (University of Trieste, Italy). Ever since, genetics, and healthcare in a broader sense, have become a passion.
During my PhD I worked on a variety of aspects of congenital and age-related hearing loss, including epidemiological studies to dissect relevant covariates and genetic association studies to identify the genes involved, such as genome-wide association studies (GWAS) and sequencing data analysis. After completing my PhD I relocated to the Sidra Hospital in Qatar to work on understanding how a consanguineous population can increase discovery power for genetic associations.
In 2017, I was appointed as lead analyst for the NIHR Blood & Transplant Research Unit (NIHR BTRU) in Population Health and Genomics, and specifically the Genetics Theme, working jointly with the Sanger Institute and the University of Cambridge. In this role, I expanded my technical knowledge working with extremely large datasets (more than half a million participants and thousands of variables) and gained experience in research management, by leading an international consortium (Blood Cell Consortium) and by supervising younger researchers. Leveraging this experience and project, I have developed a new research proposal focusing on fundamental aspects of the application of polygenic scores to health outcomes, for instances considering the interplay of polygenic and somatic variation with environmental exposures in the ageing process. Furthermore, I am interested in exploring innovative methods, e.g. machine-learning algorithms, to represent complex interactions between different OMICS datasets.
Selected Publications
Journal Articles
Chen M-H, Raffield LM, Mousas A, et al.Chen M-H, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X, Manansala R, Laplante V, Chen M, Lo KS, Qian H, Lareau CA, Beaudoin M, Hunt KA, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Floyd JS, Broer L, Grarup N, Guo MH, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang QQ, Huang W, Jorgenson E, Kacprowski T, Kahonen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimaki T, Lerch MM, Linneberg A, Liu Y, Lyytikainen L-P, Manichaikul A, Martin HC, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nauck M, Nikus K, Ouwehand WH, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Roberts DJ, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif J-C, Trembath RC, Ghanbari M, Volker U, Volzke H, Watkins NA, Zonderman AB, Wilson PWF, Li Y, Butterworth AS, Gauchat J-F, Chiang CWK, Li B, Loos RJF, Astle WJ, Evangelou E, van Heel DA, Sankaran VG, Okada Y, Soranzo N, Johnson AD, Reiner AP, Auer PL, Lettre G close, 2020, Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations, Cell, Vol:182, ISSN:0092-8674, Pages:1198-1213.E14
Vuckovic D, Bao EL, Akbari P, et al.Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen M-H, Raffield LM, Tardaguila M, Huffman JE, Ritchie SC, Megy K, Ponstingl H, Penkett CJ, Albers PK, Wigdor EM, Sakaue S, Moscati A, Manansala R, Lo KS, Qian H, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala KN, Wilson PWF, Choquet H, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Felix SB, Floyd JS, Broer L, Grarup N, Guo MH, Guo Q, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang W, Jorgenson E, Kacprowski T, Kahonen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimaki T, Linneberg A, Liu Y, Lyytikainen L-P, Manichaikul A, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nikus K, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif J-C, Ghanbari M, Volker U, Volzke H, Watkins NA, Weiss S, Cai N, Kundu K, Watt SB, Walter K, Zonderman AB, Cho K, Li Y, Loos RJF, Knight JC, Georges M, Stegle O, Evangelou E, Okada Y, Roberts DJ, Inouye M, Johnson AD, Auer PL, Astle WJ, Reiner AP, Butterworth AS, Ouwehand WH, Lettre G, Sankaran VG, Soranzo N close, 2020, The polygenic and monogenic basis of blood traits and diseases, Cell, Vol:182, ISSN:0092-8674, Pages:1214-1231.e11
Nagtegaal AP, Broer L, Zilhao NR, et al.Nagtegaal AP, Broer L, Zilhao NR, Jakobsdottir J, Bishop CE, Brumat M, Christiansen MW, Cocca M, Gao Y, Heard-Costa NL, Evans DS, Pankratz N, Pratt SR, Price TR, Spankovich C, Stimson MR, Valle K, Vuckovic D, Wells H, Eiriksdottir G, Fransen E, Ikram MA, Li C-M, Longstreth WT, Steves C, Van Camp G, Correa A, Cruickshanks KJ, Gasparini P, Girotto G, Kaplan RC, Nalls M, Schweinfurth JM, Seshadri S, Sotoodehnia N, Tranah GJ, Uitterlinden AG, Wilson JG, Gudnason V, Hoffman HJ, Williams FMK, Goedegebure A close, 2019, Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment, Scientific Reports, Vol:9, ISSN:2045-2322
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