ENIGMA is our informal journal club for discussions of research in genetic epidemiology. Organized by Dr. Fred Schumacher, the genesis of such a tortured acronym is an enigma in and of itself (though the enigma machine is a great metaphor). Each Wednesday at 4:00 PM we get together to have snacks and chat about a recent human genetics paper. Some of our recent discussions are listed below!
Loci associated with skin pigmentation identified in African populations
On November 15th, Karen He presented a paper entitled “Loci associated with skin pigmentation identified in African populations”. The group had a vigorous discussion and worked through some of the interesting and enormous supplemental materials.
LD score regression distinguishes confounding from polygenicity in genome-wide association studies
On November 8th, Chun Li presented a paper entitled “LD score regression distinguishes confounding from polygenicity in genome-wide association studies”. Chun provided an overview of the model set-up, many of the assumptions of this statistical approach, and the overall contribution of this work to our understanding of these genetic models. Chun pointed out the innovation […]
The 5,300-year-old Helicobacter pylori genome of the Iceman
On September 13th, 2017 Gloria Tavera presented a paper entitled “The 5,300-year-old Helicobacter pylori genome of the Iceman”.
Research and development spending to bring a single cancer drug to market and revenues after approval
On September 20th, 2017 Dr. Lindsay Sausville presented a paper entitled “Research and development spending to bring a single cancer drug to market and revenues after approval”. We had a great discussion about immunotherapies and how they are marketed by pharmaceutical companies, and what payment structures might apply to these types of very expensive therapies. […]
The promise of discovering population-specific disease-associated genes in South Asia
On October 4th, 2017 Kevin Chesmore presented “The promise of discovering population-specific disease-associated genes in South Asia”, a paper which provides an overview of potential genetic studies that could be conducted primarily in India. We had a vigorous discussion on the motivations for this perspective piece, and touched on the idea of “genetic colonialism” and […]
Performance gains in genome-wide association studies for longitudinal traits via modeling time-varied effects
On September 27th, 2017 Zuxi (Terry) Cui presented a paper on “Performance gains in genome-wide association studies for longitudinal traits via modeling time-varied effects”. We discussed the authors statistical methods, but also had a lengthy discussion about why there are not more genetic studies that include longitudinal traits, and how we might increase these studies […]
Identification of individuals by trait prediction using whole-genome sequencing data
After a two week break for various meetings, we met on October 25th, 2017 to discuss “Identification of individuals by trait prediction using whole-genome sequencing data”. We had a great discussion on the results of this paper and the potential impact this could have to study participation rates and data availability. We also discussed the […]
Classificaton of common human diseases derived from shared genetic and environmental determinants
On September 6th, 2017 Dr. Fred Schumacher presented a paper titled “Classification of common human diseases derived from shared genetic and environmental determinants” by Kanix Wang and co-authors.