Análisis y evaluación de los principales componentes químicos de diferentes genotipos de tabaco (Nicotiana tabacum L.)

The nicotine, reducing sugar and ion contents from the threshing of tobacco can re-used from the industry. The crude oil and fatty oil compositions of tobacco seeds can be considered as an alternative source of raw material for biodiesel. In this study, the nicotine, reducing sugar content, crude oil, fatty acid composition and ion content were determined in 29 genotypes and 1 cultivar of tobacco. The genetic diversity was determined among the tobacco cultivar and genotypes base on examined properties. The nicotine content varied between 0.10-0.87%, reducing sugar ranged from 9.70-21.30%, crude oil varied between 24.33-47.00% and fatty acid compositions was found in the range of 77.94-100%. Linoleic (13.92-75.04%) and butyric (0.33-64.98%) acids were the major components. Overall, the BSR-5 (52.56 mg/g) and ESR-5 (44.58 mg/g) genotypes exhibited the highest potassium contents and ESR-7 (6.54 mg/g) and ESR-8 (1.28 mg/g) genotypes had the lowest chlorine contents. As a result of this study, the highest nicotine content, reducing sugar and crude oil of tobacco were found in ESR-4, ESR-11 and BSR-5 genotypes, respectively. The dendrogram analysis divided the tobacco into two main groups and most of the same origin genotypes fell into the same group. The results indicated that the different tobacco leaves and seeds can be evaluated as an alternative source in the industry as cigarettes, biodiesel and different industrial applications such as cosmetic, oil paints and varnishes based on their chemical properties.La nicotina, el contenido de iones y azúcares reductores pueden usarse en la selección en la industria del tabaco. La composición del aceite crudo y los ácidos grasos de las semillas de tabaco pueden evaluarse de manera alternativa para la industria de biodiesel. En este estudio, la nicotina, el contenido de azúcares reductores, el aceite crudo, la composición en ácidos grasos y el contenido de iones se determinaron en tabacos de 29 genotipos y 1 cultivar. La diversidad genética se determinó entre los cultivares de tabaco y los genotipos basándose en las propiedades examinadas. El contenido de nicotina varió entre 0,10-0,87%, el valor de azúcares reductores varió entre 9,70-21,30%, el aceite crudo osciló entre 24,33-47,00% y las composiciones de ácidos grasos oscilaron entre 77,94 y 100%. Los componentes principales fueron los ácidos linoleico (13,92-75,04%) y butírico (0,33-64,98%). En general, en los genotipos BSR-5 (52,56 mg/g) y ESR-5 (44,58 mg/g) mostraron el mayor contenido de potasio y los genotipos ESR-7 (6,54 mg/g) y ESR-8 (1,28 mg/g) el contenido más bajo de cloro. Como resultado de este estudio, se encontró un mayor contenido de nicotina, azúcares reductores y aceite crudo en los tabacos de los genotipos ESR-4, ESR-11 y BSR-5, respectivamente. El análisis mediante dendrograma mostró dos grupos principales y la mayor parte de los mismos genotipos de igual origen tuvieron lugar en el mismo grupo. Los resultados indicaron que las diferentes hojas y semillas de tabaco pueden evaluarse como una fuente alternativa en la industria como cigarrillos, biodiesel y diferentes industrias como cosmética, pinturas al óleo y barnices en función de sus propiedades químicas

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Mobile element insertions (MEIs) are a known cause of genetic disease but have been underexplored due to technical limitations of genetic testing methods. Various bioinformatic tools have been developed to identify MEIs in Next Generation Sequencing data. However, most tools have been developed specifically for genome sequencing (GS) data rather than exome sequencing (ES) data, which remains more widely used for routine diagnostic testing. In this study, we benchmarked six MEI detection tools (ERVcaller, MELT, Mobster, SCRAMble, TEMP2 and xTea) on ES data and on GS data from publicly available genomic samples (HG002, NA12878). For all the tools we evaluated sensitivity and precision of different filtering strategies. Results show that there were substantial differences in tool performance between ES and GS data. MELT performed best with ES data and its combination with SCRAMble increased substantially the detection rate of MEIs. By applying both tools to 10,890 ES samples from Solve-RD and 52,624 samples from Radboudumc we were able to diagnose 10 patients who had remained undiagnosed by conventional ES analysis until now. Our study shows that MELT and SCRAMble can be used reliably to identify clinically relevant MEIs in ES data. This may lead to an additional diagnosis for 1 in 3000 to 4000 patients in routine clinical ES

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wide variant calling approach, despite being located in protein coding sequence. More detailed analysis revealed that the position of the variant within exon 5 of TUBB3 was not targeted by the enrichment kit, although consistent high-quality coverage was obtained at this position, resulting from nearby targets that provide off-target coverage. In the initial analysis, variant calling was restricted to the exon targets +/- 200 bases, allowing the variant to escape detection by the variant calling algorithm. This phenomenon may potentially occur more often, as we determined that 36 established ID genes have robust off-target coverage in coding sequence. Moreover, within these regions, for 17 genes (likely) pathogenic variants have been identified before. Therefore, this clinical report highlights that, although compute-intensive, performing genomewide variant calling instead of target-based calling may lead to the detection of diagnostically relevant variants that would otherwise remain unnoticed

Characteristics of Different Systems for the Solar Drying of Crops

Solar dryers are used to enable the preservation of agricultural crops, food processing industries for dehydration of fruits and vegetables, fish and meat drying, dairy industries for production of milk powder, seasoning of wood and timber, textile industries for drying of textile materials. The fundamental concepts and contexts of their use to dry crops is discussed in the chapter. It is shown that solar drying is the outcome of complex interactions particular between the intensity and duration of solar energy, the prevailing ambient relative humidity and temperature, the characteristics of the particular crop and its pre-preparation and the design and operation of the solar dryer

Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

In the original publication of the article, consortium author list was missing in the article