The Polygenic Score Catalog: new functionality and tools to enable FAIR research.

Polygenic scores (PGS) have transformed human genetic research and have multiple potential clinical applications, including risk stratification for disease prevention and prediction of treatment response. Here, we present a series of recent enhancements to the PGS Catalog (www.PGSCatalog.

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.

The NHGRI-EBI GWAS Catalog (www.ebi.ac.

A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.

Comprehensive genome annotation is essential to understand the impact of clinically relevant variants. However, the absence of a standard for clinical reporting and browser display complicates the process of consistent interpretation and reporting. To address these challenges, Ensembl/GENCODE and RefSeq launched a joint initiative, the Matched Annotation from NCBI and EMBL-EBI (MANE) collaboration, to converge on human gene and transcript annotation and to jointly define a high-value set of transcripts and corresponding proteins.

Use of a new zwitterionic cellulose derivative for removal of crystal violet and orange II from aqueous solutions.

This study describes the synthesis of a new bioadsorbent with zwitterionic characteristics and its successful application for removal of a cationic dye (crystal violet, CV) and an anionic dye (orange II, OII) from single component aqueous systems. The new bi-functionalized cellulose derivative (MC3) was produced by chemical modification of cellulose with succinic anhydride and choline chloride to introduce carboxylic and quaternary ammonium functional groups on the cellulose surface. MC3 was characterized by several wet chemical and spectroscopic methods.

The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation.

We present the Polygenic Score (PGS) Catalog (https://www.PGSCatalog.org), an open resource of published scores (including variants, alleles and weights) and consistently curated metadata required for reproducibility and independent applications.

Application of pyridine-modified chitosan derivative for simultaneous adsorption of Cu(II) and oxyanions of Cr(VI) from aqueous solution.

The bioadsorbent C1, which is a chitosan derivative prepared in a one-step synthesis, was successfully used to adsorb Cr(VI) and Cu(II) simultaneously. Here, for the first time the simultaneous adsorption of a cation and an anion was modeled using the Corsel model for kinetics and the Real Adsorbed Solution Theory model for equilibrium data. Batch studies of the adsorption of Cu(II) and Cr(VI) in single and binary aqueous solutions were performed as a function of initial solute concentration, contact time, and solution pH.

Ensembl 2020.

The Ensembl (https://www.ensembl.org) is a system for generating and distributing genome annotation such as genes, variation, regulation and comparative genomics across the vertebrate subphylum and key model organisms.

Trimellitated sugarcane bagasse: A versatile adsorbent for removal of cationic dyes from aqueous solution. Part II: Batch and continuous adsorption in a bicomponent system.

In the second part of this series of studies, the bicomponent adsorption of safranin-T (ST) and auramine-O (AO) on trimellitated sugarcane bagasse (STA) was evaluated using equimolar dye aqueous solutions at two pH values. Bicomponent batch adsorption was investigated as a function of contact time, solution pH and initial concentration of dyes. Bicomponent kinetic data were fitted by the pseudo-first-order and pseudo-second-order models and the competitive model of Corsel.

Synthesis and application of sugarcane bagasse cellulose mixed esters. Part II: Removal of Co and Ni from single spiked aqueous solutions in batch and continuous mode.

Sugarcane bagasse cellulose succinate trimellitate (SBST) was prepared by a one-pot synthesis method. The synthesis of this novel mixed ester was investigated by a 2-factorial design. The parameters investigated were time, temperature, and succinic anhydride mole fraction (χ).

Ensembl variation resources.

The major goal of sequencing humans and many other species is to understand the link between genomic variation, phenotype and disease. There are numerous valuable and well-established variation resources, but collating and making sense of non-homogeneous, often large-scale data sets from disparate sources remains a challenge. Without a systematic catalogue of these data and appropriate query and annotation tools, understanding the genome sequence of an individual and assessing their disease risk is impossible.

Ensembl 2019.

The Ensembl project (https://www.ensembl.org) makes key genomic data sets available to the entire scientific community without restrictions.

Bifunctionalized chitosan: A versatile adsorbent for removal of Cu(II) and Cr(VI) from aqueous solution.

This study describes the chemical modification of chitosan to produce a novel bifunctionalized adsorbent material (C4) for the removal of Cu and oxyanions of Cr from a single aqueous solution. The chemical modifications allowed C4 to be insoluble under acidic conditions, improving the chemical properties of the modified chitosan in aqueous solution. C4 adsorbent was synthesized by reaction of the amino group of chitosan with 2-pyridinecarboxaldehyde, a reduction of imine group, followed by esterification with EDTA dianhydride (EDTAD).

Synthesis and application of sugarcane bagasse cellulose mixed esters. Part I: Removal of Co and Ni from single spiked aqueous solutions in batch mode using sugarcane bagasse cellulose succinate phthalate.

Sugarcane bagasse cellulose mixed ester succinate phthalate (SBSPh) was synthesized by a novel one-pot reaction method. The effects of temperature, time and mole fraction of succinic anhydride (χ) on the responses weight gain (wg), number of carboxylic acid groups (n), and adsorption capacity (q) of Co and Ni were evaluated by a 2 experimental design. The chemical structure of the material was elucidated by Fourier transform infrared, C Multiple Cross-Polarization solid-state NMR spectroscopy and H NMR relaxometry.

Modeling adsorption of copper(II), cobalt(II) and nickel(II) metal ions from aqueous solution onto a new carboxylated sugarcane bagasse. Part II: Optimization of monocomponent fixed-bed column adsorption.

In the second part of this series of studies, the monocomponent adsorption of Cu, Co and Ni onto STA adsorbent in a fixed-bed column was investigated and optimized using a 2 central composite design. The process variables studied were: initial metal ion concentration and spatial time, and the optimized responses were: adsorption capacity of the bed (Q), efficiency of the adsorption process (EAP), and effective use of the bed (H). The higher Q for Cu, Co and Ni were 1.

Trimellitated sugarcane bagasse: A versatile adsorbent for removal of cationic dyes from aqueous solution. Part I: Batch adsorption in a monocomponent system.

Trimellitated-sugarcane bagasse (STA) was used as an environmentally friendly adsorbent for removal of the basic dyes auramine-O (AO) and safranin-T (ST) from aqueous solutions at pH 4.5 and 7.0.

Synthesis, characterisation and application of pyridine-modified chitosan derivatives for the first non-racemic Cu-catalysed Henry reaction.

The preparation, characterisation and application of two pyridine-modified chitosan derivatives (C1 and C2) containing Cu(OAc) adsorbed as catalysts for the conversion of benzaldehyde into 2-nitro-1-phenylethanol are described. Quantitative solid-state C multiple-contact cross-polarization, magic-angle-spinning, nuclear magnetic resonance (MC-CP MAS NMR) measurements confirmed the successful grafting of 2-pyridinecarboxaldehyde and 6-methylpyridine-2-carboxaldehyde to the chitosan backbone and indicated that 47(±2)% of the NH groups were grafted for both C1 and C2. The use of C1-Cu(OAc) as a catalyst in the nitroaldol reaction led to 96(±1)% conversion and 19(±4)% enantiomeric excess (ee), while the use of C2-Cu(OAc) as a catalyst also promoted the nitroaldol reaction, affording almost quantitatively the expected 2-nitro-1-phenylethanol (98(±1)%) with 14.

Ensembl 2018.

The Ensembl project has been aggregating, processing, integrating and redistributing genomic datasets since the initial releases of the draft human genome, with the aim of accelerating genomics research through rapid open distribution of public data. Large amounts of raw data are thus transformed into knowledge, which is made available via a multitude of channels, in particular our browser (http://www.ensembl.

Synthesis and application of a new carboxylated cellulose derivative. Part III: Removal of auramine-O and safranin-T from mono- and bi-component spiked aqueous solutions.

In the third part of this series of studies, the adsorption of the basic textile dyes auramine-O (AO) and safranin-T (ST) on a carboxylated cellulose derivative (CTA) were evaluated in mono- and bi-component spiked aqueous solutions. Adsorption studies were developed as a function of solution pH, contact time, and initial dye concentration. Adsorption kinetic data were modeled by monocomponent kinetic models of pseudo-first- (PFO), pseudo-second-order (PSO), intraparticle diffusion, and Boyd, while the competitive kinetic model of Corsel was used to model bicomponent kinetic data.

Optimization of cellulose and sugarcane bagasse oxidation: Application for adsorptive removal of crystal violet and auramine-O from aqueous solution.

Cellulose (Cel) and sugarcane bagasse (SB) were oxidized with an HPO-NaNO mixture to obtain adsorbent materials with high contents of carboxylic groups. The oxidation reactions of Cel and SB were optimized using design of experiments (DOE) and response surface methodology (RSM). The optimized synthesis conditions yielded Cox and SBox with 4.

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).

The NHGRI-EBI GWAS Catalog has provided data from published genome-wide association studies since 2008. In 2015, the database was redesigned and relocated to EMBL-EBI. The new infrastructure includes a new graphical user interface (www.

Ensembl 2017.

Ensembl (www.ensembl.org) is a database and genome browser for enabling research on vertebrate genomes.

Synthesis and application of a new carboxylated cellulose derivative. Part II: Removal of Co, Cu and Ni from bicomponent spiked aqueous solution.

In the second part of this series of studies, the competitive adsorption of three binary systems Cu-Co, Cu-Ni and Co-Ni on a carboxylated cellulose derivative (CTA) was evaluated in binary equimolar (1:1) metal-ion aqueous solutions. Bicomponent adsorption studies were developed as a function of contact time and initial metal ion concentration. Bicomponent adsorption kinetic data was modeled by monocomponent kinetic models of pseudo-first- (PFO) and pseudo-second-order (PSO) and a competitive kinetic model of Corsel.

Synthesis and application of a new carboxylated cellulose derivative. Part I: Removal of Co(2+), Cu(2+) and Ni(2+) from monocomponent spiked aqueous solution.

A new carboxylated cellulose derivative (CTA) was prepared from the esterification of cellulose with 1,2,4-Benzenetricarboxylic anhydride. CTA was characterized by percent weight gain (pwg), amount of carboxylic acid groups (nCOOH), elemental analysis, FTIR, TGA, solid-state (13)C NMR, X-ray diffraction (DRX), specific surface area, pore size distribution, SEM and EDX. The best CTA synthesis condition yielded a pwg and nCOOH of 94.