A5055865019- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Genomics and Rare Diseases
- Single-cell and spatial transcriptomics
- Bioinformatics and Genomic Networks
- Cytokine Signaling Pathways and Interactions
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Cell Image Analysis Techniques
- Multiple Sclerosis Research Studies
- Avian ecology and behavior
- Systemic Lupus Erythematosus Research
- Diabetes and associated disorders
- BRCA gene mutations in cancer
- Scientific Computing and Data Management
- Protein Tyrosine Phosphatases
- Amyotrophic Lateral Sclerosis Research
- Congenital Ear and Nasal Anomalies
- RNA regulation and disease
- Ocular Disorders and Treatments
- Parkinson's Disease Mechanisms and Treatments
- Genomics and Phylogenetic Studies
- Gene Regulatory Network Analysis
- Cardiac electrophysiology and arrhythmias
- RNA Research and Splicing
Biogen (United States)
2020-2023
Royal Society for the Protection of Birds
2009-2023
National Audubon Society
2023
California Department of Fish and Wildlife
2023
California Department of Conservation
2023
Audubon Nature Institute
2023
Center for Human Genetics
2009-2012
Institute of Genetics and Cancer
2012
University of Edinburgh
2012
Vanderbilt University
2008-2012
The presence of ribonucleotides in genomic DNA is undesirable given their increased susceptibility to hydrolysis. Ribonuclease (RNase) H enzymes that recognize and process such embedded are present all domains life. However, unicellular organisms as budding yeast, they not required for viability or even efficient cellular proliferation, while humans, RNase H2 hypomorphic mutations cause the neuroinflammatory disorder Aicardi-Goutières syndrome. Here, we report an essential enzyme mice,...
The extent of genetic variation found in drug metabolism genes and its contribution to interindividual response medication remains incompletely understood. To better determine the identity frequency 11 phase I genes, exons flanking intronic regions cytochrome P450 (CYP) isoenzyme CYP1A1, CYP1A2, CYP2A6, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4 CYP3A5 were amplified from genomic DNA sequenced. A total 60 kb bi-directional sequence was generated each 93 human DNAs, which...
Lithium has neuroprotective effects in cell and animal models of amyotrophic lateral sclerosis (ALS), a small pilot study patients with ALS showed significant effect lithium on survival. We aimed to assess whether improves survival ALS.The carbonate (LiCALS) trial is randomised, double-blind, placebo-controlled oral taken daily for 18 months ALS. Patients aged at least years who had according the revised El Escorial criteria, disease duration between 6 36 months, were taking riluzole...
There is much interest in the mechanisms that regulate adult tissue homeostasis and their relationship to processes governing foetal development. Mice deleted for Wilms' tumour gene, Wt1, lack kidneys, gonads, spleen die at mid-gestation due defective coronary vasculature. Wt1 vital maintaining mesenchymal–epithelial balance these tissues required epithelial-to-mesenchyme transition (EMT) generates vascular progenitors. Although only expressed rare cell populations adults including...
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) eight unrelated families. Four these are nonsense, two frame-shift, missense. The missense both second Thyroglobulin Type-1...
Abstract Muscle strength is highly heritable and predictive for multiple adverse health outcomes including mortality. Here, we present a rare protein-coding variant association study in 340,319 individuals hand grip strength, proxy measure of muscle strength. We show that the exome-wide burden protein-truncating damaging missense variants associated with reduction identify six significant genes, KDM5B , OBSCN GIGYF1 TTN RB1CC1 EIF3J . In example titin ( TTN) locus demonstrate convergence...
In long-lived raptors with delayed maturity, the period between fledging and settlement on a breeding site may take several years is poorly understood. our study of reintroduced population White-tailed Eagles (Haliaeetus albicilla), we investigated movements during this transient (juvenile dispersal) phase natal dispersal using records wing-tagged birds. Maximum juvenile distance (JDD), as measured from (or release) sites to locations recorded prior birds settling ranged 18 200 km in...
Genetic associations with macroscopic brain structure can provide insights into function and disease. However, specific measures of local folding are largely under-explored. Here, we conducted large-scale genome- exome-wide regional cortical sulcal derived from magnetic resonance imaging scans 40,169 individuals in UK Biobank. We discovered 388 across 77 genetic loci, genes associated loci enriched for expression the cerebral cortex, neuronal development processes, differential regulation...
Centralized Bioinformatics Core Facilities provide shared resources for the computational and IT requirements of investigators in their department or institution. As such, they must be able to effectively react new types experimental technology. Recently faced with an unprecedented flood data generated by next generation DNA sequencers, these groups found it necessary respond quickly efficiently informatics infrastructure demands. newly facing this challenge need anticipate time design...
Abstract Genome-wide association studies have successfully discovered thousands of common variants associated with human diseases and traits, but the landscape rare variation in disease has not been explored at scale. Exome sequencing population biobanks provide an opportunity to systematically evaluate impact coding across a wide range phenotypes discover genes allelic series relevant health disease. Here, we present results from systematic analyses 4,529 using single-variant gene tests...
For many species, there is evidence that breeding performance changes as an individual ages. In iteroparous often increases through early life and expected to level out or even decline (senesce) later in life. An individual's sex conditions experienced may also affect how this with age. Long-term monitoring of individuals from reintroduced populations can provide unique opportunities explore age-related trends might otherwise be logistically challenging. We used a dataset population...
Abstract To meet the growing demands from scientists to effectively extract deep insights single cell RNA sequencing, spatial transcriptomics, and emerging multiome datasets, we developed cellxgene VIP (Visualization In Plugin), a frontend interactive visualization plugin of framework, which greatly expanded capabilities base tool in following aspects. First, it generates comprehensive set over eighteen commonly used quality control analytical plots high resolution with highly customizable...
Abstract Genetic predisposition has been shown to contribute substantially the age at which we die. Genome-wide association studies (GWASs) have linked more than 20 loci phenotypes related human lifespan 1 . However, little is known about how impacted by gene loss of function. Through whole-exome sequencing 352,338 UK Biobank participants European ancestry, assessed relevance protein-truncating variant (PTV) burden on individual and parental survival. We identified four exome-wide...