Genetic studies have shown that the Ashkenazi Jewish (AJ) population (numbering about 10 million individuals worldwide) had undergone a severe medieval bottleneck, followed by an extremely rapid expansion. This demographic history makes the AJ population attractive for disease mapping studies, since deleterious variants may have arisen in frequency in AJ and are thus easier to detect.
The Ashkenazi Genome Consortium (TAGC), of which our lab is a member, has been recently founded to realize the potential of Ashkenazi genetics. We have so far completed the sequencing and analysis of 128 high-coverage complete genomes of healthy AJ individuals (a “reference panel”). Our analysis has established the utility of our reference panel for a number of medical genetics applications, such as carrier screening, clinical genomics, and imputation of missing variants [1,2]. We are in the process of sequencing hundreds of additional genomes.
We have also studied the population genetics of AJ in comparison to other populations . Our study established that the Ashkenazi ancestry draws from an approximately equal mixture of European and Middle-Eastern ancestries. A reconstruction of the recent AJ history suggested an effective population size of merely ≈350 individuals around 700 years ago. Recent work focused on finer modeling of the population’s history, specifically, quantifying the sources and times of European gene flow into early Ashkenazi Jews. We are currently interested in the impact of sex-specific demographic events in the Ashkenazi history.
In parallel, the lab is collaborating on medical studies of specific diseases and conditions (currently schizophrenia, Crohn’s, lipid levels, and age-related macular degeneration; see also [3,4,5]). One goal of the lab is to develop efficient methods that leverage the unique AJ demographic history for accurate inference of Ashkenazi genomes that were only sparsely sequenced. A particular application of interest is pre-implantation genetic testing, where genetic material is extracted and sparsely sequenced from single embryonic cells.
 Carmi et al., Nature Communications, 2014 (link)
 Baskovich et al., Genetics in Medicine, 2015 (link)
 Quint et al., European Journal of Medical Genetics, 2016 (link)
 Jaron et al., Clinical Genetics, 2016 (link)
 Vijai et al., Cancer Discovery, 2016 (link)