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

Studies on Diffusion of Surfactants and Macromolecules

A new apparatus for measuring the translational diffusion coefficient in liquids at steady state is presented. The advantages of the described technique are i. the ability to characterize the dependence of the diffusion coefficient on concentration with a single experiment, and ii. simplified transport equation since the time dependence is absent, thus making the apparatus suitable for studying complex systems. The apparatus is used to determine the diffusion coefficient of sodium dodecyl sulfate below and slightly above the CMC. Surfactant diffusion is also analyzed theoretically by means of non- equilibrium thermodynamics. The rotational diffusion coefficient of rod like colloidal molecules is determined using static light scattering while dynamic light scattering (DLS) is used to determine the diffusion coefficient of W/O microemulsion systems and their corresponding size and interparticle interactions

Studies on Diffusion of Surfactants and Macromolecules

A new apparatus for measuring the translational diffusion coefficient in liquids at steady state is presented. The advantages of the described technique are i. the ability to characterize the dependence of the diffusion coefficient on concentration with a single experiment, and ii. simplified transport equation since the time dependence is absent, thus making the apparatus suitable for studying complex systems. The apparatus is used to determine the diffusion coefficient of sodium dodecyl sulfate below and slightly above the CMC. Surfactant diffusion is also analyzed theoretically by means of non- equilibrium thermodynamics. The rotational diffusion coefficient of rod like colloidal molecules is determined using static light scattering while dynamic light scattering (DLS) is used to determine the diffusion coefficient of W/O microemulsion systems and their corresponding size and interparticle interactions