This study employs dynamic panel data for 34 Sub Saharan Africa (SSA) countries for the period 1984-2016 to estimate the effects of renewable energy on environmental quality measured by three indicators, namely, per capita CO2 emissions, energy intensity (EI) and Aggregate National Savings (ANS). The study leveraged a battery of second-generation econometric tests and estimation and causality methods to obtain the coefficients between the regressed and the regressors. Results reveal that use of renewable energy reduces CO2 emissions and energy intensity while it enhances ANS. Economic growth still seems to be expensive for the region as it stimulates CO2 emissions. However, it has a positive effect on ANS. As expected, fossil fuels exacerbate CO2 emissions and energy intensity. FDI is found to be detrimental for the environment of SSA region with its positive significant coefficient on CO2 emissions. Financial development is reported to reduce CO2 emissions. Some causal links between variables are also noted.
Short-rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons). Conventional mutation detection (usually by iterative Sanger sequencing) is inefficient and expensive, and often not undertaken. Whole exome massive parallel sequencing has been used to identify new genes for SRTD (WDR34, WDR60 and IFT172); however, the clinical utility of whole exome sequencing (WES) has not been established. WES was performed in 11 individuals with SRTDs. Compound heterozygous or homozygous mutations were identified in six confirmed SRTD genes in 10 individuals (IFT172, DYNC2H1, TTC21B, WDR60, WDR34 and NEK1), giving overall sensitivity of 90.9%. WES data from 993 unaffected individuals sequenced using similar technology showed two individuals with rare (minor allele frequency <0.005) compound heterozygous variants of unknown significance in SRTD genes (specificity >99%). Costs for consumables, laboratory processing and bioinformatic analysis were