We support boolean queries, use +,-,<,>,~,* to alter the weighting of terms
Software variant annotation toolkit for GBA gene variants detected from Illumina/Gauchian tool. Command-line tool designed to annotate tsv files generated by the Illumina/Gauchian tool.
Software application as ensemble approach to rank putative causal transcription factors that regulate set of query genes by prediction confidence.
A variant annotator for GBA variants called by Illumina Gauchian tool.
Collection of software tools for scaffolding and improving modern genome assemblies. Reference-based scaffolder. Used for fast and flexible genome assembly scaffolding and improvement.
Core provides researchers with access to equipment in three main pipelines: Cell and tissue imaging resources, including microscopes and a slide scanner; Flow cytometry, including analytical flow cytometry and cell sorting; Mass cytometry (CyTOF). Provides consultation services including panel and experiment design, sample preparation tips and technical troubleshooting, training for independent use on select equipment, data acquisition and cell sorting.
Software methylation analysis pipeline for genome graph. Genome-graph-based DNA methylation analysis using whole genome bisulfite sequencing.
Consortium to characterise and improve understanding of full spectrum of human genomic variation. HGSVC utilises the latest sequencing technologies to create high-quality maps of human structural variation, developing new tools for SV discovery and analysis. Consortium involves many groups internationally.
NIH-funded project that aims to engage scientists and bioethicists in creating human pangenome reference and resource that represents global human genomic variation. In the process of creating the pangenome, the HPRC is developing improved technology for genome assembly and a next-generation tool ecosystem that leverages the pangenome for comprehensive analyses.
Software pipeline to detect Transposable Elements transcripts. Used to identify TE-derived promoters and transcripts using transcriptomic data from multiple sources, including short-read RNA-seq data, long-read RNA-seq data and single cell RNA-seq data.
Software for simulation of RNA-seq reads. Combines flexible and highly configurable design with detailed simulation of entire library preparation and sequencing pipeline and is designed to include effects of polyA selection and RiboZero for ribosomal depletion, hexamer priming sequence biases, GC-content biases in polymerase chain reaction (PCR) amplification, barcode read errors and errors during PCR amplification.
Software tool as robust and configurable RNA expression simulator. Configurable and modular program allowing RNA expression emulation.
Software tool to uncover cellular alternative splicing (AS) heterogeneity and regulatory mechanisms by integrating splicing patterns with gene expression in single-cell RNA-seq (scRNA-seq) data.
High-throughput system designed for automated digitization of microscopy slides, primarily for life science research, clinical diagnosis, and geological applications. It excels at creating high-quality virtual slides from brightfield, fluorescence, and polarization microscopy samples.
Specialized laser ablation system designed for high-resolution, high-speed bioimaging using LA-ICP-MS (Laser Ablation Inductively Coupled Plasma Mass Spectrometry). Built to analyze elemental composition of biological samples, particularly tissues and cells, with focus on speed and precision.
High-field, preclinical imaging system primarily used for research on small animals like mice and rats. It enables researchers to conduct detailed anatomical and functional studies, including morphological imaging, functional MRI (fMRI), diffusion tensor imaging (DTI), and MR spectroscopy (MRS). The system's high field strength allows for high-resolution imaging, enabling researchers to visualize intricate anatomical details and subtle changes in tissue and organ function.
Eclipse 50i has optical capabilities, utilizing Nikon CFI60 optics, and stress-free design with solid platform for routine digital imaging applications.
MRI facility is research-dedicated space that includes 3T Siemens Prisma (whole-body) scanner, an MR-compatible Brain Products system for EEG and psycho-physiological measures, eye tracker, mock scanner, and a MagPro X100 equipped with Localite TMS Navigator for brain stimulation.
Core for In Vivo and In Vitro metabolic phenotyping. Provides validated in vitro and in vivo tests. Phenotyping applications span from mitochondrial and cellular metabolism to whole body animal physiology. Provides instrument training, experimental design, data analysis. Studies can be performed by staff, but IACUC-approved Animal Use Protocols are also available to help investigators use resources on their own.
Core provides flow cytometry and cell sorting services.
Core provides equipment, expertise, and training for researchers to assess rodent vision in vivo. Offers technical expertise, training, and instrumentation for in vivo visual function assessment in animal models including rodents.