Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

Étude thermodynamique de 4 cristaux liquides contenant des substituants dioxyethylene par analyse enthalpique differentielle et chromatographie en phase gazeuse

A thermodynamic study of 4 liquid crystals with DOE substituents using gas chromatography are carried out. The 4 compounds have the same mesogenic part; they differ by the partial or total substitution of the terminal chain heptyloxy with 2-(2-methoxyethoxy)ethoxy (DOE). The thamal properties of the 4 compounds are determined by differntial scanning calorimetry. The knowledge of the gas chromatographic specific retention volume of a serial geometric isomers obtained by using the 4 liquid crystals as stationary phases allow to calculate their thermodynamic data: activity coeffients, enthalpies and entropies of solution. In the other hand, the support influence on the thermal properties are investigated. The results founds show that this parameter is not negligible but disappear when the coating increases. For silica, the transitions (melting, clarification) are apparent only when the coating is higher than 50%. With Chromosorh P, 5% of coating are sufficient to observe the transitions