Carmi et al. - Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

September 2014

The article was published in Nature communications in August 2014.

The Ashkenazi group is large and has a very high degree of endogamy. This, in combination with a relatively large population growth, makes it possible to study the growth of the Ashkenazi population and the size of the original group.

The article is very interesting and uses high quality auDNA data of 128 Ashkenazim and 26 Flemish persons. The researches concluded that 57 of the 128 were acceptable as 100 percent Ashkenazi; the rest had partial non-Ashkenazi SNVs.

The data is compared with the simulations of a modal. This model (paragraph 4.3.1 of the supplements) has a few assumptions and four parameters. One important assumption is that the population bottleneck took place at one moment for the complete group. As demonstrated on this website this is a simplification of the history of the Ashkenazim. The assumed average generation length is 25 years. The model has four parameters: at moment T in history (expressed in number of generations ago) the population was reduced from N0 to Nb. The fourth parameter is the population growth rate. In this case it is expressed as population growth per generation. Figure 11 below is reproduced from the original article.

Comparison with the results of this website

The data and analysis of Carmi et al. are completely unrelated to the data and analysis of this website. However, the conclusions are on the same subjects:


We have significant differences in the two models. However, given the large differences in data and analysis, the basic conclusions in the two analyses are close:

European versus Middle Eastern population

In Carmi et al. is was reported that "One ancestral population, consistent with being the ancestors of the FL (Flemish) samples, contributed 46-50% of the AJ (Ashkenazi) gene pool. We call that population ancestral European and the other ancestral Middle Eastern.". The used model by Carmi et al. looks much simpler that the complex mixtures that happened in Europe. It is not clear how this value of 46-50% can be compared mathematically to the different Y-DNA haplogroups that are described on this website and originate in the Middle East, Spain, Western and Eastern Europe or whose origin is not yet known.