Who & What
We are staff and students that sit together to discuss recent literature on genomics. We are interested in a broad range of topics including but not limited to regulatory genomics, gene expression, DNA methylation, mutational evolution, GWAS, single cell sequencing, and environmental and behavioural genetics.
The JC is organised by Amy Roberts and Ricardo Costeira

When & Where

We meet up 1pm on Tuesdays at the Department of Twin Research & Genetic Epidemiology, St Thomas’ Hospital Campus, 4th Floor South Wing Block D (Directions here). A Zoom link is also provided for those needing to join remotely. Details for each meeting are provided via our mailing list.

Register to our mailing list here.

Upcoming meetings:

10/10/2023, 1pmAmy RobertsClonal hematopoiesis is associated with protection from Alzheimer’s disease
24/10/2023, 1pmRicardo CosteiraTBC
07/11/2023, 1pmSergio Villicana MunozPeople with more extreme attitudes towards science have self-confidence in their understanding of science, even if this is not justified
21/11/2023, 1pmDaniel KirkTBC
05/12/2023, 1pmRamy SaadTBC

Past meetings:

05/07/2023, 1pmSergio Villicana MunozPolygenic scoring accuracy varies across the genetic ancestry continuum
21/06/2023, 1pmXinyu YanExploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations.
07/06/2023, 1pmAmy RobertsDiscussion on “Positive Research Culture”
24/05/2023, 1pmDongmeng WangLongitudinal phenotypic aging metrics in the Baltimore Longitudinal Study of Aging
10/05/2023, 1pmMax TomlinsonGenetic predictors of lifelong medication-use patterns in cardiometabolic diseases
26/04/2023, 1pmRicardo CosteiraLimited role of generation time changes in driving the evolution of the mutation spectrum in humans
12/04/2023, 1pmAmy RobertsIntegrated analysis of multimodal single-cell data
22/03/2023, 1pmChris ShoreFunction and Constraint in Enhancer Sequences with Multiple Evolutionary Origins
08/03/2023, 1pmSergio Villicana MunozHuman Capital Mediates Natural Selection in Contemporary Humans
22/06/2022, 1pmFran Conti-RamsdenGenetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women
08/06/2022, 1pmZakaria JarrarPromoting the genomic revolution in Africa through the Nigerian 100K Genome Project
25/05/2022, 1pmYujing (Maggie) XiaDNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases
11/05/2022, 1pmXinyu YanGenome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
27/04/2022, 1pmNiccolo RossiSingle-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease
23/03/2022, 1pmChristopher ShoreIdentifying molecular targets for reverse aging using integrated network analysis of transcriptomic and epigenomic changes during aging
09/03/2022, 1pmRicardo Costeira Longitudinal DNA methylation dynamics as a practical indicator in clinical epigenetics
23/02/2022, 1pmXiaofan Jiang Epigenetic Age Acceleration Is Not Associated with Age-Related Macular Degeneration
09/02/2022, 1pmMaxim FreydinA global overview of genetically interpretable multimorbidities among common diseases in the UK Biobank
26/01/2022, 1pmDongmeng Wang Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits
12/01/2022, 1pmSergio Villicana Munoz & Xiaopu Zhang Paper1 : RETRACTED ARTICLE: Detection and replication of epistasis influencing transcription in humans
Paper2 : Phantom epistasis between unlinked loci
08/12/2021, 1pmZihe XuRare variant contribution to human disease in 281,104 UK Biobank exomes
24/11/2021, 1pmYasrab RazaFunctional dynamic genetic effects on gene regulation are specific to particular cell types and environmental conditions
10/11/2021, 1pmColette ChristiansenBody Mass Index and Birth Weight Improve Polygenic Risk Score for Type 2 Diabetes
27/10/2021, 1pmAmy RobertsDistinction of lymphoid and myeloid clonal hematopoiesis
13/10/2021, 1pmMax TomlinsonPredicting the probability of death using proteomics
29/09/2021, 1pmParaskevi ChristofidouUncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney
15/09/2021, 12:30pm Roger CompteA combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence
23/06/2021 Wed, 12:30pm Mark SimcoeTuberculosis Exposure With Risk of Behçet Disease Among Patients With Uveitis
09/06/2021 Wed, 12:30pm Zakariya JarrarA genome-wide association study identifies key modulators of complement factor H binding to malondialdehyde-epitopes
26/05/2021 Wed, 12:30pm Christopher ShoreThe NASA Twins Study: A multidimensional analysis of a year-long human spaceflight
12/05/2021 Wed, 12:30pm Niccolo RossiMaternal effect killing by a supergene controlling ant social organization
28/04/2021 Wed, 12:30pm Roger CompteMachine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis
14/04/2021 Wed, 12:30pm Dongmeng WangGenetic control of RNA splicing and its distinctive role in complex trait variation
24/03/2021 Wed, 12:30pm Nirujah SarvanantharajahPhenome-wide functional dissection of pleiotropic effects highlights key molecular pathways for human complex traits
10/03/2021 Wed, 12:30pm Max TomlinsonGWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background
24/02/2021 Wed, 12:30pm Karina PatasovaDifferences between germline genomes of monozygotic twins
10/02/2021 Wed, 12:30pm Zihe XuInvestigating the genetic architecture of noncognitive skills using GWAS-by-subtraction
27/01/2021 Wed, 12:30pm Yasrab RazaGenetic mechanisms of critical illness in Covid-19
13/01/2021 Wed, 12:30pm Xiaofan JiangGenome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms
09/12/2020 Wed, 12:30pm Shafiqur RahmanValidity of polygenic risk scores: are we measuring what we think we are?
25/11/2020 Wed, 12:30pm Sergio Villicana MunozFine-scale population structure in the UK Biobank: implications for genome-wide association studies
11/11/2020 Wed, 12:30pm Ricardo CosteiraA decade of epigenetic change in aging twins: Genetic and environmental contributions to longitudinal DNA methylation
28/10/2020 Wed, 12:30pm Paraskevi ChristofidouAssociations of autozygosity with a broad range of human phenotypes
14/10/2020 Wed, 12:30pm Colette Christiansen Allele-Specific Network Reveals Combinatorial Interaction That Transcends Small Effects in Psoriasis GWAS
30/09/2020 Wed, 12:30pm Amy RobertsThe impact of sex on gene expression across human tissues
16/09/2020 Wed, 12:30pm Maxim FreydinPWAS: proteome-wide association study—linking genes and phenotypes by functional variation in proteins
12/08/2020 Wed, 12:30pm Merideth FreiheitComputational Prospecting the Great Viral Unknown + Talk “Exploring Phages in Gut Metagenomic Data from Twins Discordant for Antimicrobial Resistance Potential”
01/07/2020 Wed, 12:30pm Philippa WellsAssociation of Genetic Risk for Rheumatoid Arthritis With Cognitive and Psychiatric Phenotypes Across Childhood and Adolescence
17/06/2020 Wed, 12:30pm Niccolò RossiIncreasing trend of scientists to switch between topics
03/06/2020 Wed, 12:30pm Karina PatasovaPan-cancer analysis of whole genomes
20/05/2020 Wed, 12:30pm Olatz Mompeo MasachsGenome-wide association study of dietary intake in the UK biobank study and its associations with schizophrenia and other traits
06/05/2020 Wed, 12:30pm Mark SimcoeEstimating heritability and its enrichment in tissue-specific gene sets in admixed populations
22/04/2020 Wed, 12:30pm Sergio Villicana MunozA global overview of pleiotropy and genetic architecture in complex traits
25/03/2020 Wed, 12.30pm Wing-Kin ChanCandidate Cancer Driver Mutations in Distal Regulatory Elements and Long-Range Chromatin Interaction Networks
11/03/2020 Wed, 12.30pmShafiqur RahmanAdaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
26/02/2020 Wed, 12.30pm Helen KingDiverse reprogramming codes for neuronal identity
12/02/2020 Wed, 12.30pmSara ReciDNA methylation profiles are associated with complex regional pain syndrome after traumatic injury
29/01/2020 Wed, 12.30pmSimon CouvreurIs population structure in the genetic biobank era irrelevant, a challenge, or an opportunity?
15/01/2020 Wed, 12.30pmRicardo CosteiraEpigenome-wide association study of DNA methylation and microRNA expression highlights novel pathways for human complex traits
11/12/2019 Wed, 12.30pmOlatz Mompeo MasachsComparison of adopted and non-adopted individuals reveals gene-environment interplay for education in the UK Biobank
13/11/2019 Wed, 12.30pmAmy RobertsGenetic correlates of social stratification in Great Britain
16/10/2019 Wed, 12.30pmMaxim FreydinThe multiplex network of human diseases
02/10/2019 Wed, 12.30pmMark SimcoeRecovery of trait heritability from whole genome sequence data
18/09/2019 Wed, 12.30pmParaskevi ChristofidouQuantitative analysis of population-scale family trees with millions of relatives
26/06/2019 Wed, 12.30pmAlessia ViscontiScale-free networks are rare
12/06/2019 Wed, 12.30pmGiulia Beatrice PiaggeschiCell Specific eQTL Analysis without Sorting Cells
29/05/2019 Wed, 12.30pmAntonino ZitoSingle-cell RNA sequencing identifies cell-type-specific cis-eQTLs and co-expression QTLs
01/05/2019 Wed, 12.30pmMaxim FreydinLearning one’s genetic risk changes physiology independent of actual genetic risk
05/04/2019 Fri, 11amAdewale AdebayoIdentification of 12 genetic loci associated with human healthspan
22/03/2019 Fri, 11amAmy RobertsWhole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
08/03/2019 Fri, 11amKarina PatasovaA primer on deep learning in genomics
22/02/2019 Fri, 11amShafiqur RahmanAssessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
08/02/2019 Fri, 12pmMark Simcoe Estimating SNP-Based Heritability and Genetic Correlation in Case-Control Studies Directly and with Summary Statistics
25/01/2019 Fri, 12pmMaxim Freydin Large-scale investigation of the reasons why potentially important genes are ignored.
11/01/2019 Fri, 12pmMarcel van de Streek Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.
07/12/2018 Fri, 12pmPhilippa Wells DADA2: High-resolution sample inference from Illumina amplicon data
09/11/2018 Fri, 12pmJuan Castillo Fernandez Module Analysis Captures Pancancer Genetically and Epigenetically Deregulated Cancer Driver Genes for Smoking and Antiviral Response.
12/10/2018 Fri, 12pmOlatz Mompeo Masachs Height, body mass index, and socioeconomic status: mendelian
randomisation study in UK Biobank.
28/09/2018 Fri, 12pmMarianna Sanna Genomic history of the Sardinian population.
06/07/2018 Fri, 12pmAntonino Zito Intra-tumour diversification in colorectal cancer at the single-cell level.
22/06/2018 Fri, 12pmAlessia ViscontiFunctional mapping and annotation of genetic associations with FUMA.
25/05/2018 Fri, 12pmMarcel van de Streek Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals.
11/05/2018 Fri, 12pmNiccolo’ Rossi G = E: What GWAS Can Tell Us about the Environment.
27/04/2018 Fri, 12pmJuan Castillo Fernandez DNA methylation-based biomarkers and the epigenetic clock theory of ageing.
09/03/2018 Fri, 12pmAlex Couto Alves Recent natural selection causes adaptive evolution of an avian polygenic trait.
19/01/2018 Fri, 12pmAntonino Zito Landscape of X chromosome inactivation across human tissues.
01/12/2017 Fri, 12pmMarcel van de Streek Genetic effects on gene expression across human tissues.
06/11/2017 Fri, 12pmJuan Castillo Fernandez Caloric restriction delays age-related methylation drift.
06/10/2017 Fri, 12pmAlessia ViscontiAn atlas of genetic associations in UK Biobank.
29/09/2017 Fri, 12pmNiccolo’ RossiAn Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets.
30/06/2017 Fri, 12pmAlex Couto AlvesAn Expanded View of Complex Traits: From Polygenic to Omnigenic.
26/05/2017 Fri, 12pmMariana SannaAnalysis of protein-coding genetic variation in
60,706 humans.
12/05/2017 Fri, 12pmNiccolo’ RossiA semi-synthetic organism with an expanded genetic alphabet.
05/05/2017 Fri, 12pmImogen PotterDiet-Microbiota Interactions Mediate Global Epigenetic Programming in Multiple Host Tissues.
28/04/2017 Fri, 12pmMaxim FreydinSelection against variants in the genome associated with educational attainment.
17/03/2017 Fri, 12pmMariana SannaEpigenetic and genetic dissections of UV-induced global gene dysregulation in skin cells through multi-omics analyses.
10/03/2017 Fri, 12pmNiccolo’ RossiGenome evolution predicts genetic interactions in protein complexes and reveals cancer drug targets.
03/02/2017 Fri, 12pmMariana SannaDerived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European.
20/01/2017 Fri, 12pmMariana SannaIntegrated computational approach to the analysis of RNA-seq data reveals new transcriptional regulators of psoriasis.
13/01/2017 Fri, 12pmNiccolo’ RossiEpistasis and natural selection shape the mutational architecture of complex traits.
16/12/2016 Fri, 12pmJuan Castillo FernandezGenetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.
09/12/2016 Fri, 12pmYuko KurushimaCorrelation of Smoking-Associated DNA Methylation Changes in Buccal Cells With DNA Methylation Changes in Epithelial Cancer.
25/11/2016 Fri, 12pmSerena VerdiEpigenetic modulation of chronic anxiety and pain by histone deacetylation.
11/11/2016 Fri, 12pmAlex Couto AlvesA new view of transcriptome complexity and regulation through the lens of local splicing variations.
14/10/2016 Fri, 12pmHelena WellsRevisiting telegony: offspring inherit an acquired characteristic of their mother’s previous mate.
26/08/2016 Fri, 2pmAlex Couto AlvesSex speeds adaptation by altering the dynamics of molecular evolution.
19/08/2016 Fri, 2pmCraig GlastonburyTempo and mode of genome evolution in a 50,000-generation experiment.
29/07/2016 Fri, 1pmAntonino ZitoMain paper: Unique features of long non-coding RNA biogenesis and function.
Supplementary paper: The Landscape of long noncoding RNA classification.
07/07/2016 Thu, 1pmAlex Couto AlvesGenetic mapping uncovers cis-regulatory landscape of RNA editing.
24/06/2016 Fri, 1pmClémence PinelEpistemic modesty, ostentatiousness and the uncertainties of epigenetics: on the knowledge machinery of (social) science.
10/06/2016 Fri, 1pmAlex Couto AlvesThe multiple testing burden in sequencing-based disease studies of global populations.
27/05/2016 Fri, 2pmCraig GlastonburyBiology of genomes (videos).
26/05/2016 Thu, 2pmCraig GlastonburyBiology of genomes (videos).
19/05/2016 Thu, 1pmCraig GlastonburyBiology of genomes (videos).
28/04/2016 Thu, 1pmAlex Couto AlvesComparative evaluation of isoform-level gene expression estimation algorithms for RNA-seq and exon-array platforms.
24/03/2016 Thu, 1pmTiphaine MartinModelling local gene networks increases power to detect trans-acting genetic effects on gene expression.
17/03/2016 Thu, 1pmAlex Couto AlvesMultiple Testing Procedures and
Applications to Genomics.
Resampling-Based Multiple Hypothesis Testing with Applications to Genomics: New Developments in the R/Bioconductor Package multtest.
25/02/2016 Thu, 12pmElena Carnero MontoroPopulation-specificity of human DNA methylation.
19/02/2016 Fri, 3.30pmTiphaine MartinRibosome profiling: new views of translation, from single codons to genome scale.
05/02/2016Craig GlastonburyFine-mapping cellular QTLs with RASQUAL and ATAC-seq.
29/01/2016Alex Couto AlvesAlternative Splicing QTLs in European and African Populations
22/01/2016Antonino ZitoAbundant contribution of short tandem repeats to gene expression variation in humans.
15/01/2016Abhishek NagThe UK10K project identifies rare variants in health and disease.
04/12/2015Alexander ZlobinIdentification of a large set of rare complete human knockouts (in Icelanders).
27/11/2015Craig GlastonburyPredicting quantitative traits from genome and phenome with near perfect accuracy.
20/11/2015Tiphaine MartinLarge multiallelic copy number variations in humans.
13/11/2015Craig GlastonburyBuffet-Style Expression Factor-Adjusted Discovery Increases the Yield of Robust Expression Quantitative Trait Loci.
30/10/2015Alex Couto AlvesAn atlas of genetic correlations across human diseases and traits.
23/10/2015Elena Carnero MontoroThe fine-scale genetic structure of the British population.
16/10/2015Alessia Visconty & Maxim FreydinLD Score regression distinguishes confounding from polygenicity in genome-wide association studies.
Partitioning heritability by functional annotation using genome-wide association summary statistics.
09/10/2015Maxim FreydinPartitioning heritability by functional annotation using genome-wide association summary statistics.
02/10/2015Alex Couto AlvesNormalization of RNA-seq data using factor analysis of control genes or samples.
18/09/2015Alex Couto AlvesRNA-Seq gene expression estimation with read mapping uncertainty.
11/09/2015Alex Couto AlvesMapping and quantifying mammalian transcriptomes by RNA-Seq.
04/09/2015Antonino ZitoEvaluation of the Infinium Methylation 450K technology.
28/08/2015Craig GlastonburySystematic evaluation of spliced alignment programs for RNA-seq data.
21/08/2015Tiphaine Martin & Alex Couto AlvesGenetic and epigenetic fine mapping of causal autoimmune disease variants.
14/08/2015Craig GlastonburyIntegrative analysis of 111 reference human epigenomes.
07/08/2015Elena Carnero Montoro & Maria NeedhamsenChromHMM: automating chromatin-state discovery and characterization.
Unsupervised pattern discovery in human chromatin structure through genomic segmentation.
31/07/2015Alex Couto AlvesLandscape of transcription in human cells (revisited).
24/07/2015Alex Couto AlvesAn integrated encyclopedia of DNA elements in the human genome (revisited).
17/07/2015Alex Couto AlvesIntersecting transcription networks constrain gene regulatory evolution
10/07/2015Craig GlastonburyCell specific eQTL analysis without sorting cells
03/07/2015Tiphane MartinWidespread seasonal gene expression reveals annual differences in human immunity and physiology
26/06/2015Maxim FreydinSpecial session on the Belyaev experiment (Destabilizing selection as a factor in domestication)
19/06/2015Alex Couto AlvesThe Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
12/06/2015Elena Carnero MontoroAdditive, Epistatic, and Environmental Effects Through the Lens of Expression Variability QTL in a Twin Cohort
5/06/2015Dunja VucenovicThe role of chromosome domains in shaping the functional genome
15/05/2015Dunja VucenovicSingle-cell Hi-C reveals cell-to-cell variability in chromosome structure
17/04/2015Alex Couto AlvesGene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins
20/03/2015Dunja VucenovicChimeras taking shape: Potential functions of proteins encoded by chimeric RNA transcripts