Dear All,
The next meeting of the North of England Genetic Epidemiology Group will be on Wednesday 28th March.
The meeting will be in the Cancer Genetics Building, St James’s University Hospital, Beckett Street, Leeds, LS9 7TF (marked E on the map at
http://medhealth.leeds.ac.uk/download/491/st_james_university_hospital_campus_map ). Lunch will be available from 12pm and talks will begin at 1pm. We have four excellent speakers and all are welcome.
If you would like to attend please email me ([log in to unmask]) by 9th March to let me know, indicating whether
you’d like lunch.
Doug Speed (Aarhus University) - Better estimation of SNP heritability from summary statistics provides a new understanding of the genetic architecture of complex traits
I will present SumHer, software for estimating confounding, SNP heritability, enrichments and genetic correlations from summary statistics. To date, these estimates have
been obtained using LD Score Regression (LDSC), but these are derived from an unrealistic heritability model where each SNP in the genome is expected to contribute equally. SumHer improves accuracy by generating estimates based on more realistic heritability
models. To demonstrate the impact of this change, I will present results from analysing summary statistics from 24 large-scale association studies (average sample size 121,000). These paint a new picture of the genetic architecture of complex traits. Whereas
LDSC studies have found that heritability is focused in specific genomic regions (e.g., one reported that over a third of heritability resides in "conserved regions", approximately 2.5% of the genome), SumHer instead shows that heritability is much more diffuse
(e.g., the most enriched SNPs are those in transcription start sites, but these contribute only 70% more than average). Although it will be depressing to realise that complex traits are even more complicated than previously thought, I will hopefully raise
spirits a bit by showing how these findings allow us to more efficiently analyse future genetic data.
Lynsey Hall (University of Cardiff) - Characterizing heritability, pleiotropy, and functional impact in Primary Biliary Cholangitis (PBC) using pre-existing genome-wide data
Rohit Thakur (University of Leeds) – Classification of melanoma tumours based on transcriptomic data
Angie Cox (University of Sheffield) - Low coverage sequencing and copy number analysis of circulating DNA in lung cancer and melanoma
Best wishes,
Mark
Dr Mark Iles
Section of Epidemiology and Biostatistics,
Cancer Genetics Building,
St James's University Hospital,
Beckett Street,
Leeds,
LS9 7TF
UK
e-mail: [log in to unmask]">[log in to unmask]
https://medhealth.leeds.ac.uk/profile/900/868/mark_martin_iles
phone: +44 (0)113 206 6607
fax: +44 (0)113 234 0183