Paisajes y flora forestal de al-Andalus: una reconstrucción a partir de documentación histórica textual

The translation and interpretation of works by Andalusi botanists and agronomists provide an increasingly sharp image of the species and forest landscapes in al-Andalus (Iberian area under Muslim rule in the Middle Ages). Regarding agriculture, it is known that domestication processes and the introduction of new species and singular forms of use were carried out, thus changing agricultural landscapes. Consequently, new life styles and consumption habits developed. A lot less is known about forestry management, especially when referring to forest landscapes and tree species in the Iberian Peninsula. The authors of this work have been studying agricultural and forest flora in al-Andalus for many years. In addition to numerous miscellaneous contributions, their first approximation on the trees and shrubs cultivated there was published in 2004, and the first volume of Flora Agrícola y Forestal de Al-Andalus covering 80 species of monocotyledons appeared in 2012. In anticipation of the volume devoted to woody dicotyledons to be published in 2019 (including over 150 species, 100 genera and 50 families), a synthesis of the forest landscapes and the most unique species in the Arabic texts is presented in this work. Among the taxa identified are Iberian endemics such as Flueggea tinctoria and Corema album, rare taxa or highly localized ones like Rhododendron ponticum subsp. baeticum, Tetraclinis articulata and Zizyphus lotus with species of peculiar forestry interest such as Arctostaphylos uva-ursi, Taxus baccata, Buxus sempervirens, Ilex aquifolium, Laurus nobilis and Vitex agnus-castus, and archaeophytes like Celtis australis or Anagyris foetida.La traducción e interpretación de las obras de botánicos y geóponos andalusíes permite vislumbrar, de forma cada vez más nítida, las especies y paisajes forestales de al-Andalus (área ibérica bajo dominación musulmana en la Edad Media). En el ámbito agrícola es conocido que se desarrollaron procesos de domesticación e introducción de nuevas especies y formas singulares de uso que cambiaron los paisajes agrícolas y, en consecuencia, también las formas de vida y alimentación, pero es mucho menos conocido lo concerniente al ámbito forestal, especialmente si nos referimos a los paisajes y especies forestales ibéricas. Los autores estudian la Flora Agrícola y Forestal en al-Andalus. Además de numerosas contribuciones misceláneas, una primera aproximación sobre los árboles y arbustos cultivados fue publicada en 2004, y un primer volumen de la citada Flora en 2012, abarcando 80 especies de monocotiledóneas. Como adelanto al volumen dedicado a las dicotiledóneas leñosas, que será publicado en 2019 (con más de 150 especies de 100 géneros y 50 familias), se presenta ahora una síntesis de los paisajes forestales y de las especies más singulares identificadas en los textos estudiados. Entre ellas hay endemismos ibéricos como Fluggea tinctoria y Corema album, taxones raros o muy localizados como Rhododendron ponticum subsp. baeticum, Tetraclinis articulata o Zizyphus lotus, junto a especies de singular interés forestal como Arctostaphilos uva-ursi, Taxus baccata, Buxus sempervirens, Ilex aquifolium, Laurus nobilis o Vitex agnus-castus, y arqueófitos como Celtis australis o Anagyris foetida

Caracterización de la biomasa de distintas especies de algas, enfocadas al consumo incluyéndolas en alimentos funcionales.

Comunicación en formato posterEn un contexto actual que dificulta el abastecimiento de la población de una manera sostenible, encontramos la necesidad de desarrollar nuevos sistemas de producción de alimentos, apostando en este caso por las algas. Éstas son una fuente segura y ambientalmente sostenible de alimentos y compuestos bioactivos con un alto valor nutricional. Este estudio se enmarca en el contexto del Proyecto ALGAHUB (TED2021- 131555B-C22). Dentro de dicho proyecto, la UMA trabaja en coordinación con la UCA en uno de los subproyectos, enfocado a la innovación y desarrollo de alimentos funcionales en un formato atractivo para el consumidor. Concretamente nuestro grupo se dedica a la caracterización de la composición interna de las algas, en busca de las más interesantes a nivel nutricional y funcional. Por su parte, UJA y UAL van a centrar sus esfuerzos en optimizar las tecnologías de producción a gran escala de la biomasa.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech

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

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health); doi: https://doi.org/10.13039/100011272; Grant(s): 305444, 305444Funder: Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness); doi: https://doi.org/10.13039/501100003329Funder: Generalitat de Catalunya (Government of Catalonia); doi: https://doi.org/10.13039/501100002809Funder: EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj); doi: https://doi.org/10.13039/501100008530Funder: Instituto Nacional de Bioinformática ELIXIR Implementation Studies Centro de Excelencia Severo OchoaFunder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health)Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Funder: Durch Princess Beatrix Muscle Fund Durch Speeren voor Spieren Muscle FundFunder: University of Tübingen Medical Faculty PATE programFunder: European Reference Network for Rare Neurological Diseases | 739510Funder: European Joint Program on Rare Diseases (EJP-RD COFUND-EJP) | 44140962

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Flora agrícola y forestal de Al-Andalus

Este volumen es la primera parte del mundo de las especies de interés agrícola y forestal cultivadas durante la época y cultura arabo-islámica en el área de la Península Ibérica conocida como al-Andalus. El texto principal aporta para cada especie su descripción, distribución geográfica y ecologia, amplias secciones sobre la historia del cultivo, los usos tradicionales de las plantas y un análisis critico sobre su identificación a partir de los textos andalusíes.Peer reviewe

Paisajes agrícolas y forestales de al-Andalus: una reconstrucción desde la documentación histórica textual

Peer reviewe

Obtención de nuevas variedades de cítricos tipo pomelo con bajo contenido en furanocumarinas y elevado en flavonoides

En cítricos, los pomelos (Citrus paradisi) y pummelos (C. maxima) presentan un elevado contenido en furanocumarinas y bajo en flavonoides. Las furanocumarinas son polifenoles que interaccionan negativamente con ciertos medicamentos, produciendo el llamado “efecto pomelo”, mientras que los flavonoides son compuestos antioxidantes con propiedades beneficiosas para la salud. Con el objetivo de obtener nuevas variedades con bajo o nulo contenido en furanocumarinas y elevado en flavonoides, se realizaron hibridaciones entre clementina (bajo contenido en furanocumarinas y alto en flavonoides) y pummelo (perfil opuesto a las clementinas). De las progenies obtenidas se han analizado 15 híbridos diploides y 15 triploides obtenidos a partir de hibridaciones sexuales 2x X 2x y 4x X 2x en las cuales se ha utilizado como parental femenino ‘Clementina de Nules’ a nivel diploide y tetraploide y como parental masculino pummelo ‘Pink’ diploide. Los híbridos triploides mostraron en promedio un menor contenido en furanocumarinas (8.084 mg/L 3x < 14.473 mg/L 2x, 6,7-DHB; p<0.05) y mayor contenido en flavonoides (11.838 mg/L 3x > 1.667 mg/L 2x, hesperidin; p<0.05) que los híbridos diploides, siendo la estrategia de cruzamiento 4x X 2x mejor que la 2x X 2x para la obtención de nuevas variedades de cítricos tipo pomelo con bajo contenido en furanocumarinas y elevados contenidos en flavonoides. Además, estos híbridos triploides presentan una característica esencial en las nuevas variedades de cítricos, que es la ausencia de semillas, muy apreciada por los consumidores. La repetición de los análisis en posteriores campañas de recolección y el estudio de nuevos parentales nos ayudará a establecer las combinaciones parentales adecuadas para obtener nuevos híbridos con estas características