Are loss-of-function variants relevant to complex disease?
Three members of the group (James, Luke & Jeff) were involved in a substantial undertaking (led by our colleague Daniel MacArthur) to study loss-of-function (LoF) variants in otherwise “normal”...
View ArticleA neat idea to tell polygenic signal from stratification noise
One of my favorite presentations at ASHG this year was a poster given by Brendan Bulik-Sullivan from the Broad. Brendan and his colleagues attempted to answer a puzzling question which has come up...
View ArticleLooking back at looking forward: ASHG 2013
Wendy offers a retrospective on the forward-looking atmosphere at last year’s American Society of Human Genetics meeting, in Boston Looking into the future is something I felt the Annual ASHG...
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Reproducible Research #BoG14
This year’s Biology of Genomes (BoG) meeting maintained its high standard with another display of excellent and exciting science. One of my favourite presentations was given by Matthew Stephens from...
View Article1000 Genomes and Beyond: a retrospective
1000 Genomes and Beyond Conference held on 24-26 of June 2014 in Cambridge, UK was the latest of the 1000 Genome Project community meetings, marking the end of this grandiose endeavor launched in 2008....
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