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An ordinary blog by an ordinary bloke

by Dr A. Mesut Erzurumluoğlu | Principal Bioinformatician at Bicycle Therapeutics (formerly at Boehringer Ingelheim, and Univs. of Cambridge, Leicester & Bristol) – blogging since 2006. All views mine unless stated otherwise

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My Research

SHORT ACADEMIC BIOGRAPHY

Figure showing (as of 29/10/2024) – for each publication I (co)authored – (i) year of publication, (ii) number of citations gained, and (iii) whether I was a prominent author/contributor in the respective publication or not (denoted by an asterisk if not) – see my CV for a complete list and rationale. Some key publications have been highlighted by text. My h-index is also shown as a rectangle with area h-index^2, reflecting the proportion of my citations it represents. The papers have been ordered by number of citations gained on the y-axis (1: most cited paper). Figure plotted wholly using the ggplot2 library in R – happy to share the code if you drop me an email

I was kindly asked to send in a short video for the 2022 Univ. of Leicester Annual Alumni Dinner

I am currently a Principal Scientist (Bioinformatics) at Bicycle Therapeutics. Before this, I was a Senior Scientist and Product Owner in the Comp. Biology department of Boehringer Ingelheim Pharma. I mainly contribute(d) to drug target identification, (in)validation and repurposing efforts utilising large-scale human genetics/omics and biobank/health data (see ‘Experience’ section of my LinkedIn profile for details).

In my academic career, I worked as a Sn. Research Associate (Point 49) at the MRC Epidemiology Unit, University of Cambridge (Jan 2019-Sept 2021), where we mainly studied the genetic aetiology of common metabolic disorders such as type-2 diabetes and obesity; and as a Research Associate at the University of Leicester (Nov 2015-Jan 2019), where we were mainly interested in the genetic aetiology of common respiratory diseases (e.g. chronic obstructive pulmonary disease) and related traits (e.g. lung function, smoking behaviour, blood pressure). I did a PhD in Genetic Epidemiology at the University of Bristol (with 4-year full scholarship from the MRC between Feb 2012-Dec 2015) where I mainly analysed whole-exome sequencing data obtained from consanguineous individual/families, and tried to identify (novel) causal variants of rare human diseases (e.g. Primary ciliary dyskinesia, Papillon-Lefevre syndrome). In addition to the above, I also took part in many Population genetics-related projects.

I obtained a BSc in ‘Biological Sciences (Genetics)’ in 2011 from the University of Leicester (final-year supervisor: Prof. Annette Cashmore); and prior to this, obtained A levels in Maths (Grade: A), Further Maths (B), Biology (B), Physics (B) and Electronics (A) from the Wyggeston & Queen Elizabeth I College (Leicester).

Continued below…

Mankind will probably cure all diseases except greed, the biggest killer.

— Mesut Erzurumluoğlu (@mesuturkiye) June 3, 2017

mesut_erzurumluoglu_circos_plot_manhattan_gwas_lung_function
One of my all-time favourite plots 🙂 A ‘Circos’ plot (three concentric circular Manhattan plots) presenting results from our latest lung function GWAS (Wain et al, 2017; Nature Genetics). FEV1: Forced expiratory lung volume in 1 second; FVC: Forced lung volume capacity; FEV1/FVC: the ratio of the two measurements. Labels in the outer circle show the name of the nearest gene to the newly identified (red) variants. X-axis: Genomic position of variant in genome (chromosome number in the outer circle), Y-axis: Statistical significance of variant in this study (higher the peak the greater the significance)

Below, I will share the PowerPoint slides I put together for some of my (mostly Genetics/Genetic Epidemiology based) lecture/talks and make them available for use by anyone. I have also made available notes underneath some of the slides for clarification. Feel free to contact me about the contents of the slides.

Although I have a relatively short academic career (i.e. I finished my PhD in 2016), I, with a lot of help from my colleagues, have published quite a few notable papers in the fields of common disease genetics (e.g. GWASs of smoking behaviour and lung function related traits), rare disease genetics (e.g. Primary ciliary dyskinesia, Papillon-Lefevre syndrome), statistical genetics (e.g. LD Hub), and population genetics (both Y-DNA and mtDNA haplogroups). You can view a list of my academic publications via my Google Scholar page or my CV. Re-iterating what I am passionate about Open science and thus, I’d be happy to have discussions/collaborations in clinical genetics, genetic epidemiology, consanguinity and related areas with anyone.


My PhD Thesis

Title: Population and Family based studies of Consanguinity: Genetic and Computational approaches (26/01/16) – 337 page document (excl. appendices, references and preface)

consanguinity world map
I was awarded a PhD by the University of Bristol in Feb 2016 thanks to this thesis – and four academic papers have been published as a result of it. To access my (open-access) academic papers or CV, please visit my Academia.edu page

PhD Thesis: Mesut_Erzurumluoglu_PhD_Thesis_Oct_2015_redacted_version


Talks/Lectures (in Reverse Chronological order)

Invited talk: Leveraging human genetics data to guide drug target validation (31/10/21) – 20 minute presentation at Respiration 2021

respiration2021-presentation-slides_mesut_erzurumluoglu_31_10_21Download

Review of paper: Effects of apolipoprotein B on lifespan and risks of major diseases including type 2 diabetes: a mendelian randomisation analysis using outcomes in first-degree relatives (03/06/21) – 1 hour presentation/discussion at the University of Cambridge (MRC Epidemiology Unit – Genetics Forum/Journal club)

apob_longevity_genetics_forum_mesut_03_06_21Download

Review of paper: Exome sequencing and characterization of 49,960 individuals in the UK Biobank (05/11/20) – 1 hour presentation/discussion at the University of Cambridge (MRC Epidemiology Unit – Genetics Forum/Journal club)

ukb_50k_exomes_genetics_forum_mesut_05_11_20Download

Review of paper: GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background (14/05/20) – 1 hour presentation/discussion at the University of Cambridge (MRC Epidemiology Unit – Genetics Forum/Journal club)

Slides: Omnigenic_model_genetics_forum_14_05_20Download

Review of paper: Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk (03/10/19) – 1 hour presentation/discussion at the University of Cambridge (MRC Epidemiology Unit – Genetics Forum/Journal club)

Slides: Expecto_Genetics_Forum_Mesut_03_10_19Download

Genome-wide association studies (GWASs), and Consanguinity (08/04/19) – 1 hour presentation at the University of Cambridge (MRC Epidemiology Unit – ‘WIP’ talk)

additive_model_GWAS_mesut_erzurumluoglu

Slides: WIP_seminar_Mesut_08_04_19


Review of paper: An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome (28/11/18) – 1 hour presentation/discussion at the University of Leicester (Genetic Epidemiology group – Journal club)

phewas_prs_atlas_mesut_erzurumluoglu

Slides: PRS_atlas_BioRxiv_paper_Journal_Club_Mesut_28_11_18


Ingiltere’de akademik kariyer serisi (‘Academic career in the UK’ series) (19/07/18-21/09/18) – Eight part series consisting of 1 hour talks to (Turkish) PhD students at the University of Leicester

Academic_worth_ECR_mesut_erzurumluoglu

Slides: Ingiltere’de akademik kariyer serisi_Mesut_Erzurumluoglu_19_07_18


Ideas session: Machine Learning and Deep Learning in Genetic Epidemiology (12/09/18) – 1 hour presentation/discussion at the University of Leicester (Genetic Epidemiology group – Journal club)

cnn_deep_learning_mesut_erzurumluoglu

Slides: ML_Ideas_session_Mesut_Erzurumluoglu_12_09_18


Review of paper: Genetic effects on gene expression across human tissues (11/07/18) – 1 hour presentation/discussion at the University of Leicester (Genetic Epidemiology group – Journal club)

gtex_oct_2017_nature_journal_club

Slides: GTEx_Oct_2017_paper_Journal_Club_Mesut_11_07_18


Postgraduate away-day (16/05/18) – 20 minute presentation at the University of Leicester (Dept. of Health Sciences – see #HeSPoF2018)

postdoc_phd_academic_differences
Differences between PhD and Postdoc jobs. As a PhD student, if your pie chart looks like the bottom left one, then you’ve essentially worked as a cheap postdoc – avoid! Take the time to improve yourself (i.e. transition from ‘fully dependent student’ to ‘independent researcher’) during your PhD. You won’t have the time during a Postdoc as “the project” becomes the main focus rather than you.

Slides: Postgrad_away_day_Mesut_16_05_18


Ideas session: Versatility and meeting deadlines in data science (09/05/18) – 30 minute presentation/discussion at the University of Leicester (Genetic Epidemiology group – Journal club)

refseq_gene_summaries_python_script
A Python script which converts RefSeq gene summaries to an easily readable format

Slides: Programming_themed_Ideas_Session_Mesut_09_05_18


Review of paper: Predicting effects of noncoding variants with deep learning–based sequence model (23/08/17) – 2 hour presentation/discussion at the University of Leicester (Genetic Epidemiology group – Journal club)

DeepSEA_princeton_zhou_variant_effect_predictor_mesut_erzurumluoglu

Slides: DeepSEA_Journal_Club_Mesut_23_08_17


‘Smoking Exome-chip’ project – Exome-chip meta-analysis of four smoking behaviour-related traits (11/05/17) – 1 hour talk at the University of Leicester (Dept. of Health Sciences)

Contents: (i) Intro to Genetic Epidemiology, (ii) Intro to Smoking and genetic association studies, (iii) Preliminary results

genetic_epidemiology_smoking_association_mesut_Erzurumluoglu

Slides: EpiStats_talk_Smoking_exome_chip_Mesut_Erzurumluoglu_11_05_17


Ideas session: Mendelian randomisation approach to analysing causal association of deodorant-use with common diseases (10/05/17) – 30 minute presentation/discussion at the University of Leicester (Genetic Epidemiology group – Journal club)

mendelian_randomisation_deodorant_use_mesut_erzurumluoglu
Could MR be useful in identifying whether deodorant-use has any disease causal effects?

Slides: Deodorant_use_MR_Ideas_Journal_Club_Mesut_10_05_17


Ideas session: How long would it take for a disease-causal SNP(s) to cause disease on its own? (26/04/17) – 30 minute presentation/discussion at the University of Leicester (Genetic Epidemiology group – Journal club)

GWAS_SNP_time_disease_Ideas_Journal_Club_Mesut_26_04_17
Can we predict how long it would take for a disease-causal SNP to cause the disease on its own?

Slides: SNP_time_disease_Ideas_Journal_Club_Mesut_26_04_17


Review of paper: LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis (08/03/17) – 1 hour presentation at the University of Leicester (Genetic Epidemiology group – Journal club)

ld_hub_ld_score_regression_mesut_erzurumluoglu

Slides: LD-Hub_Journal_Club_Mesut_08_03_17

Great to see LD-Hub by @oldz84 et al (2017) amongst the top 10 highly cited articles by Bioinformatics (@OUPBioinfo @OxfordJournals).

According to Google Scholar, it's been cited >250 times. I still remember the first conversation we had about it. https://t.co/NNEP2Utane

— A. Mesut Erzurumluoğlu (@mesuturkiye) June 8, 2019

Ideas session: Testing for directional dominance in (human) quantitative traits (25/01/17) – 30 minute presentation/discussion at the University of Leicester (Genetic Epidemiology group – Journal club)

directional_dominance_mesut
A new way to test for directional dominance?

Slides: directional_dominance_ideas_journal_club_mesut_25_01_17


Review of paper: HAPRAP – a haplotype-based iterative method for statistical fine mapping using GWAS summary statistics (21/09/16) – 1 hour presentation at the University of Leicester (Genetic Epidemiology group – Journal club)

ld-calculation-slide-mesut-erzurumluoglu
An example used to explain how D, D’ and r2 are calculated; and how they differ from each other

Slides: haprap_journal_club_mesut_21_09_16


Review of paper: Using Y chromosomal haplogroups in genetic association studies and suggested implications (15/06/16) – 1 hour presentation at the University of Leicester (Genetic Epidemiology group – Journal club)

y-dna mtdna haplogroup national geographic
The Y-chromosome (except pseudo-autosomal region) and mitochondrial DNA (mtDNA) are strictly paternally and maternally inherited, respectively

Slides: Y-DNA_haplogroups_Journal_Club_Mesut_15_06_16


Career in Genetic Epidemiology and academia (02/05/16) – 1 hour talk at the Qafqaz University (IV International Scientific Conference of Young Researchers)

Genetic_epidemiology_genetics_mesut_erzurumluoglu
Where Genetic Epidemiology (GE) roughly stands in the grand scheme of things in the (very large) field of Genetics (non-comprehensive list). GE requires extensive understanding of Statistics (needed to make sense of the very large datasets), Bioinformatics (application of computer software to the management of large biological data), Programming (needed to manage very large data), Genetics (needed for interpretation of results) and Epidemiology (branch of medicine which deals with how often diseases occur in different groups of people, and why); thus requires inter-disciplinary collaborations. Which is why it is easier for me just to say “I’m a geneticist” sometimes (and not a Genetic Epidemiologist!)

Slides: Qafqaz_Univ_students_Postdoctoral_Res_Assoc_Mesut_02-05-16


Consanguinity and Genetics (10/03/16) – 1 hour talk at the University of Leicester (Dept. of Health Sciences)

Contents: (i) Intro to Consanguinity, (ii) Genetic effects of consanguinity per se, (iii) Quasi-reverse genetics studies, and (iv) Rare disease studies

Key words: Quasi-reverse genetics studies, Human knockouts, Consanguineous populations, Loss of function variants, AutoZplotter, Autozygosity mapper, Proxy molecular diagnosis, Primary ciliary dyskinesia, Papillon-Lefevre syndrome, Intellectual disability, CCDC151, DNALI1, MNS1, DNAAF3, HEATR2, CTSC

proxy molecular diagnosis
‘Proxy molecular diagnosis’ using whole-exome sequencing (WES) data of siblings

Slides: PhD_AHS_Seminar_presentation_Mesut_10_03_16


Interested in following your curiosity? (10/02/16) – 30 minute talk at the University of Leicester (Careers after Biological Sciences series)

Contents: (i) What is a Postdoc? (ii) Why I chose academia? (iii) How I got to where I am?

Interested in following your curiosity? Become an academic!
Interested in following your curiosity? Become an academic!

Slides: CABS_Postdoctoral Research Associate_Mesut_10-02-16


Review of paper: Identification of a large set of rare complete human knockouts in the Icelandic population (27/01/16) – 1 hour presentation at the University of Leicester (Genetic Epidemiology group – Journal club)

endogamy consanguinity loss of function
Example of how a union of unrelated individuals differ from the union of related individuals with regards to increasing the probability of a (autosomal recessive) genetic disease in the offspring

Slides: Iceland_Human_Knockouts_Journal_Club_Mesut_27_01_16


Identifying Mendelian disease causal variants (17/04/15) – 1 hour lecture followed by an hour long practical at the University of Bristol (School of Social and Community Medicine – Shortcourse)

autozplotter
AutoZplotter: a Python script for visualising long runs of homozygosity in the genome of an individual

Slides: Identifying_causal_variants_2015_Mesut

Practical_file_Mesut – For use in Practical session


Mendelian Inheritance (25/03/14 & 13/04/15) – Two 1 hour lectures at the University of Bristol (School of Social and Community Medicine – Shortcourse)

mendels_pea_plants
Identifying the genotype of a flower with a dominant phenotype (having purple flowers in this case)

Slides: Mendelian_Inheritance_2014_Mesut – 2014 version is a little longer with additional ‘linkage’ concept slides

Slides: Mendelian_Inheritance_2015_Mesut


DNA Sequence, SNP and Mutation databases (25/03/14) – 1 hour lecture at the University of Bristol (School of Social and Community Medicine – Shortcourse)

rs9939609
An exercise to study a single nucleotide polymorphism (SNP) in detail

Slides: Sequence, SNP and Mutation Databases_2014_Mesut

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