https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45560 Wed 28 Feb 2024 15:21:35 AEDT ]]> Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:49007 Wed 03 May 2023 12:17:36 AEST ]]> A Saturated Map of Common Genetic Variants Associated with Human Height https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:50431 Tue 25 Jul 2023 19:01:27 AEST ]]> Genome-based evolutionary history of Pseudomonas spp https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44763 Pseudomonas is a large and diverse genus of Gammaproteobacteria. To provide a framework for discovery of evolutionary and taxonomic relationships of these bacteria, we compared the genomes of type strains of 163 species and 3 additional subspecies of Pseudomonas, including 118 genomes sequenced herein. A maximum likelihood phylogeny of the 166 type strains based on protein sequences of 100 single-copy orthologous genes revealed thirteen groups of Pseudomonas, composed of two to sixty three species each. Pairwise average nucleotide identities and alignment fractions were calculated for the data set of the 166 type strains and 1224 genomes of Pseudomonas available in public databases. Results revealed that 394 of the 1224 genomes were distinct from any type strain, suggesting that the type strains represent only a fraction of the genomic diversity of the genus. The core genome of Pseudomonas was determined to contain 794 genes conferring primarily housekeeping functions. The results of this study provide a phylogenetic framework for future studies aiming to resolve the classification and phylogenetic relationships, identify new gene functions and phenotypes, and explore the ecological and metabolic potential of the Pseudomonas spp.]]> Tue 08 Nov 2022 11:16:28 AEDT ]]> Genome mining of a fungal endophyte of Taxus yunnanensis (Chinese yew) leads to the discovery of a novel azaphilone polyketide, lijiquinone https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:39913 Ascomycete sp. F53 (F53), a fungal endophyte of the traditional Chinese medicinal plant Taxus yunnanensis (Chinese yew), revealed 35 putative specialized metabolite biosynthesis gene clusters, one of which encodes a rarely seen tandem polyketide synthase pathway with close homology to azaphilone biosynthesis pathways. A novel compound, lijiquinone 1, was subsequently isolated from F53 and structurally and functionally characterized. The m/z 385 [M + H+]+ compound, comprised of a cyclohexenone side group attached to a core bicyclic ring, displayed cytotoxicity against human myeloma cells (IC50 = 129 μM), as well as antifungal activity against Candida albicans (IC50 = 79 μM) and Cryptococcus albidus (IC50 = 141 μM). Our results suggest that enzymes encoded on the lij gene cluster are responsible for the synthesis of 1 and that the medicinal properties of T. yunnanensis could be partially mediated by this novel azaphilone. This study highlights the utility of combining traditional knowledge with contemporary genomic approaches for the discovery of new bioactive compounds.]]> Thu 30 Jun 2022 09:56:32 AEST ]]> A Pseudoalteromonas Clade with remarkable biosynthetic potential https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:40084 Thu 28 Jul 2022 14:10:01 AEST ]]> GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:35949 Thu 13 Jan 2022 10:29:39 AEDT ]]> Planning the Human Variome Project: the Spain report https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:8177 Sat 24 Mar 2018 08:36:15 AEDT ]]> The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: A HuGE review and meta-analysis https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:20368 Sat 24 Mar 2018 07:58:11 AEDT ]]> Emergence of endemic MLST non-typeable vancomycin-resistant Enterococcus faecium https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:25808 Enterococcus faecium is a major nosocomial pathogen causing significant morbidity and mortality worldwide. Assessment of E. faecium using MLST to understand the spread of this organism is an important component of hospital infection control measures. Recent studies, however, suggest that MLST might be inadequate for E. faecium surveillance. Objectives: To use WGS to characterize recently identified vancomycin-resistant E. faecium (VREfm) isolates non-typeable by MLST that appear to be causing a multi-jurisdictional outbreak in Australia. Methods: Illumina NextSeq and Pacific Biosciences SMRT sequencing platforms were used to determine the genome sequences of 66 non-typeable E. faecium (NTEfm) isolates. Phylogenetic and bioinformatics analyses were subsequently performed using a number of in silico tools. Results: Sixty-six E. faecium isolates were identified by WGS from multiple health jurisdictions in Australia that could not be typed by MLST due to a missing pstS allele. SMRT sequencing and complete genome assembly revealed a large chromosomal rearrangement in representative strain DMG1500801, which likely facilitated the deletion of the pstS region. Phylogenomic analysis of this population suggests that deletion of pstS within E. faecium has arisen independently on at least three occasions. Importantly, the majority of these isolates displayed a vancomycin-resistant genotype. Conclusions: We have identified NTEfm isolates that appear to be causing a multi-jurisdictional outbreak in Australia. Identification of these isolates has important implications for MLST-based typing activities designed to monitor the spread of VREfm and provides further evidence supporting the use of WGS for hospital surveillance of E. faecium.]]> Sat 24 Mar 2018 07:34:38 AEDT ]]> GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:27911 −8) at 6p22.3 (rs1740828; P = 2.29 x 10−8, OR = 1.20), providing evidence of an additional region of interest for genetic susceptibility to endometrial cancer.]]> Sat 24 Mar 2018 07:24:36 AEDT ]]> The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44169 Mon 10 Oct 2022 10:06:31 AEDT ]]> A vernalization response in a winter safflower (carthamus tinctorius) involves the upregulation of homologs of FT, FUL, and MAF https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46533 Fri 25 Nov 2022 10:23:32 AEDT ]]>