Eleanor Williams

Eleanor Williams Email and Phone Number

Senior Scientific Curator at Genomics England @ Genomics England
london, greater london, united kingdom
Eleanor Williams's Location
Greater Cambridge Area, United Kingdom
Eleanor Williams's Contact Details

Eleanor Williams personal email

n/a
About Eleanor Williams

Experienced biocurator and bioinformatician.

Eleanor Williams's Current Company Details
Genomics England

Genomics England

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Senior Scientific Curator at Genomics England
london, greater london, united kingdom
Employees:
223
Eleanor Williams Work Experience Details
  • Genomics England
    Senior Scientific Curator
    Genomics England Jan 2022 - Present
    Cambridge, England, United Kingdom
    I lead the curation team at Genomics England. We deliver updates to the panels of gene-disease associations used in the Whole Genome Sequencing analyses of patients with rare diseases and germline analysis for patients with some cancers, both part of NHS England's Genomic Medicine Service. We also provide a variant level of curation for genes used in the Newborn Genomes Programme. We work within a multi-disciplinary squad structure within Genomics England, and collaborate closely with our NHSE colleagues.
  • Genomics England
    Scientific Curator
    Genomics England Jan 2018 - Jan 2022
    Cambridge, United Kingdom
    I am working in the curation team at Genomics England (https://www.genomicsengland.co.uk). The team is responsible for building virtual gene panels in the PanelApp knowledgebase resource https://panelapp.genomicsengland.co.uk . Virtual gene panels are used in the classification of genetic variants to aid clinical interpretation of rare disease genomes, and help to deliver life-changing results for NHS patients and their families taking part in the 100,000 Genomes Project.
  • University Of Dundee
    Data Annotator/Software Developer
    University Of Dundee Mar 2015 - Jan 2018
    Cambridge, United Kingdom
    I work on a project to develop the Image Data Resource (http://idr.openmicroscopy.org/about/) with the Open Microscopy Environment Group at the Unversity of Dundee in collaboration with the European Bioinformatics Institute (EMBL-EBI) and the University of Cambridge. This online, public data resource stores, integrates and serves image datasets from published scientific studies. We are focussing on “reference image" datasets that are valuable resources for a broad community of users, either because they will be frequently accessed and cited or because they can serve as a basis for re-analysis and the development of new computational tools.The IDR contains serveral genomic and small molecule high content screen (HCS) datasets and as well as other biomaging study types such as digital pathology and super-resolution. These datasets are large and complex (several terabytes of images). I have been extracting information about the methods used, genes targetted and the resulting phenotypes from publications, helping to develop a standard format for reporting the information about a screen, and working to load the images into an OMERO server. I have also been working with ontologists to map the phenotypes seen to ontology terms (using the Cellular Microsocopy Phenotype Ontology).I am using my Perl skills, but also learning Python!
  • European Bioinformatics Institute
    Bioinformatician
    European Bioinformatics Institute Feb 2006 - Feb 2015
    Cambridge
    I was a scientific database curator and Perl programmer working in the Functional Genomics Team at the European Bioinformatics Institute. In my job I* curated submissions (microarray and high throughput sequencing) to the ArrayExpress database of functional genomics which is an archival database providing access to original data related to publications (www.ebi.ac.uk/arrayexpress)* curated data for inclusion in the Expression Atlas. This database provides summary information about baseline gene expression in normal tissues and differential gene expression under experimental conditions (www.ebi.ac.uk/gxa).* wrote Perl programs to support the flow of data from ArrayExpress to the Expression Atlas. * worked with ontologists and software developers to provide ontology mapping of the sample and experimental variable information in the Expression Atlas to allow standardization of terms and allow for query expansion in the search interface of the database.* provided help documentation for ArrayExpress and the Expression AtlasMy role at the EBI was very varied. I worked directly with data submitters, software developers and ontologists in a multi-disciplinary team.
  • Fred Hutchinson Cancer Research Center
    Computer Biologist
    Fred Hutchinson Cancer Research Center Jun 2001 - Jun 2005
    Seattle
    I worked with biologists on a number of projects ranging from studies of the mouse and human olfactory receptor gene familes, mapping the history of duplications in telomeric regions and also the trypsinogen gene family and creating and maintaining database of olfactory gene and BAC clone microarray data. I wrote Perl programs to extract information from a variety of sources, and created ACEDB and mysql databases. I also created a web interface to allow querying of the olfactory gene receptor family information.Finally I created some detailed diagrams using Postscript to display genomic information at the base pair level.
  • Rothamsted Research
    Research Scientist
    Rothamsted Research Apr 1996 - Sep 1999
    Harpenden, Uk
    Investigated the role of plant volatiles in insect attraction to plants
  • Centre For Tropical Veterinary Medicine, University Of Edinburgh
    Lab Assistant
    Centre For Tropical Veterinary Medicine, University Of Edinburgh Oct 1990 - Sep 1993
    Bovine cell culture to propagate and attenuate the tick borne parasite Theileria annulata which causes tropical theileriosis in cattle.

Eleanor Williams Skills

Bioinformatics Computational Biology Genomics Genetics Functional Genomics Molecular Biology Sequence Analysis Science R Life Sciences Lifesciences Informatics Microarray Rna Seq Object Oriented Perl Perl Hts

Eleanor Williams Education Details

Frequently Asked Questions about Eleanor Williams

What company does Eleanor Williams work for?

Eleanor Williams works for Genomics England

What is Eleanor Williams's role at the current company?

Eleanor Williams's current role is Senior Scientific Curator at Genomics England.

What is Eleanor Williams's email address?

Eleanor Williams's email address is ew****@****i.ac.uk

What schools did Eleanor Williams attend?

Eleanor Williams attended University Of Portsmouth, Southampton University, Dundee University.

What skills is Eleanor Williams known for?

Eleanor Williams has skills like Bioinformatics, Computational Biology, Genomics, Genetics, Functional Genomics, Molecular Biology, Sequence Analysis, Science, R, Life Sciences, Lifesciences, Informatics.

Who are Eleanor Williams's colleagues?

Eleanor Williams's colleagues are Joe Fitzpatrick, Loukas Moutsianas, Conor Proud, Taritro Ghoshal, Alexander Edge, Laurence Timms, Cheryl Fernando.

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