Catherine Snow
A5040852054- Genomics and Phylogenetic Studies
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- Genetics, Bioinformatics, and Biomedical Research
- CRISPR and Genetic Engineering
- Biomedical Text Mining and Ontologies
- Chromosomal and Genetic Variations
- Gene expression and cancer classification
- Protein Structure and Dynamics
- Cancer Genomics and Diagnostics
- Genetic and phenotypic traits in livestock
- Genomics and Chromatin Dynamics
- Scientific Computing and Data Management
- Enzyme Structure and Function
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- Radiation Effects and Dosimetry
- RNA modifications and cancer
- Computational Drug Discovery Methods
- Biotechnology and Related Fields
- Bioinformatics and Genomic Networks
- Pharmacogenetics and Drug Metabolism
- Colorectal Cancer Treatments and Studies
- vaccines and immunoinformatics approaches
- Graphite, nuclear technology, radiation studies
Genomics England
2021-2024
Queen Mary University of London
2021-2022
William Harvey Research Institute
2021
National Institute for Health Research
2021
University of Birmingham
2021
European Bioinformatics Institute
2015-2018
Wellcome Trust
2018
Wellcome Sanger Institute
2008-2013
University of California, Santa Cruz
2013
University of East Anglia
2007
Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals sequencing human genomes. However, putative loss-of-function genes, which are often some first identified targets genome and exome sequencing, have turned out be errors rather than true genetic variants. In order identify scope within genome, MacArthur et al. (p. 823 ; see Perspective by Quintana-Murci ) extensively validated genomes from 1000 Genomes Project, as well an additional European...
ArrayExpress (https://www.ebi.ac.uk/arrayexpress) is an archive of functional genomics data from a variety technologies assaying modalities genome, such as gene expression or promoter occupancy. The number experiments based on sequencing technologies, in particular RNA-seq experiments, has been increasing over the last few years and submissions have overtaken microarray 12 months. Additionally, there significant increase investigating single cells, rather than bulk samples, known single-cell...
Effective use of the human and mouse genomes requires reliable identification genes their products. Although multiple public resources provide annotation, different methods are used that can result in similar but not identical representation genes, transcripts, proteins. The collaborative consensus coding sequence (CCDS) project tracks protein annotations on reference with a stable identifier (CCDS ID), ensures they consistently represented NCBI, Ensembl, UCSC Genome Browsers. Importantly,...
Expression Atlas (http://www.ebi.ac.uk/gxa) provides information about gene and protein expression in animal plant samples of different cell types, organism parts, developmental stages, diseases other conditions. It consists selected microarray RNA-sequencing studies from ArrayExpress, which have been manually curated, annotated with ontology terms, checked for high quality processed using standardised analysis methods. Since the last update, has grown seven-fold (1572 as August 2015),...
The U.K. 100,000 Genomes Project is in the process of investigating role genome sequencing patients with undiagnosed rare diseases after usual care and alignment this research health implementation National Health Service. Other parts project focus on cancer infection.
BioStudies (www.ebi.ac.uk/biostudies) is a new public database that organizes data from biological studies. Typically, but not exclusively, study associated with publication. offers simple way to describe the structure, and provides flexible deposition tools access interfaces. The actual can be stored either in or remotely, both. imports supplementary Europe PMC, resource for authors publishers packaging during manuscript preparation process. It also support management needs of collaborative...
Abstract Background The domestic pig is known as an excellent model for human immunology and the two species share many pathogens. Susceptibility to infectious disease one of major constraints on swine performance, yet structure function genes comprising immunome are not well-characterized. completion genome provides opportunity annotate immunome, compare contrast immune systems. Results Immune Response Annotation Group (IRAG) used computational curation manual annotation assembly 10.2...
The Consensus Coding Sequence (CCDS) project (http://www.ncbi.nlm.nih.gov/CCDS/) is a collaborative effort to maintain dataset of protein-coding regions that are identically annotated on the human and mouse reference genome assemblies by National Center for Biotechnology Information (NCBI) Ensembl annotation pipelines. Identical annotations pass quality assurance tests tracked with stable identifier (CCDS ID). Members collaboration, who from NCBI, Wellcome Trust Sanger Institute University...
Abstract Essential dynamics sampling simulations of the domain conformations unliganded Escherichia coli adenylate kinase have been performed to determine whether ligand‐induced closed‐domain conformation is accessible open enzyme. Adenylate a three‐ protein with central CORE and twoflanking domains, LID NMPbind domains. The were applied pair separately. One aim compare results those similar study on enzyme citrate synthase domain‐locking mechanism operates in kinase. Although for suggest...
As part of the 100,000 Genomes Project, we set out to assess potential viability and clinical impact reporting genetic variants associated with drug-induced toxicity for patients cancer recruited whole-genome sequencing (WGS) as a genomic medicine service. Germline WGS from 76,805 participants was analyzed pharmacogenetic (PGx) in four genes (DPYD, NUDT15, TPMT, UGT1A1) induced by five drugs used treatment (capecitabine, fluorouracil, mercaptopurine, thioguanine, irinotecan). Linking data...
PURPOSE Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine research; however, universal standards terminologies define evidence base for role a gene disease, single harmonized resource were lacking. To tackle this issue, Gene Curation Coalition (GenCC) was formed. METHODS The GenCC drafted definitions differing levels based on existing resources, performed modified Delphi survey with three rounds narrow list...
The Gene Curation Coalition (GenCC) was formed in 2017 to bring together international resources reporting the validity of gene-disease relationships. It comprises organizations that currently provide online gene-level (ClinGen, Genomics England PanelApp, OMIM, Orphanet, PanelApp Australia, Gene2Phenotype Database), as well diagnostic laboratories and platforms have committed sharing their internal curated knowledge (Ambry Genetics, Illumina Inc., Invitae, Franklin, King Faisal, Myriad...
Abstract The Human and Vertebrate Analysis Annotation (HAVANA) group at the Wellcome Trust Sanger Institute produced manually annotated geneset for Encyclopedia of DNA Elements (ENCODE) pilot project and, as part Gencode subgroup, are reprising this role in scale up to cover whole human genome. Our manual annotation is checked computationally validated experimentally. Loci transcripts predicted be absent from initial identified by comparison with a number state-of-the-art algorithms...
Abstract Manual annotation (the "museum" model of annotation) relies on a small group specialized curators to catalogue and classify genes according their functional roles. This is both costly time consuming therefore used only for model organisms with sufficient funding. Smaller research communities often have rely other models annotation, mainly automated "factory" model, e.g. Ensembl), and the "jamboree" model (in which leading biologists from the community...
Manual annotation (the "museum" model of annotation) relies on a small group specialized curators to catalogue and classify genes according their functional roles. This is both costly time consuming therefore used only for model organisms with sufficient funding. Smaller research communities often have rely other models annotation, mainly automated "factory" model, e.g. Ensembl), and the "jamboree" model (in which leading biologists from the community...
The HAVANA group from the Wellcome Trust Sanger Institute is responsible for manual annotation of coding, transcript and pseudogene loci on human, mouse zebrafish finished genomic sequence.The total number protein coding genes extent alternative splicing human genome still unclear.In collaboration with Ensembl, RefSeq at NCBI UCSC, CCDS project (Consensus CoDing Sequence) working to define a core set transcripts.Initially limited was recently extended include mouse.Any candidate transcripts...
BioStudies is a database at EMBL-EBI that facilitates transparency and reproducibility of research, by aggregating all the outputs study (a ‘data package’) in single place.