Fiona is the Variation annotation coordinator at the EMBL-EBI. Her background is in Natural Sciences (genetics) from the University of Cambridge, followed by an MSc in bioinformatics from the University of Exeter with an internship at deCODE Genetics in Iceland, and a PhD in Bioinformatics from the University of Cambridge.
She is interested in problems where building large-scale systems for genomic data can lead to fundamental biological insights, particularly for understanding genomic variation. Fiona has led the creation of a variation component for Ensembl (www.ensembl.org), a genome information system. Her group provide one the largest catalogues of high-quality, integrated and annotated variant and phenotype data for vertebrate species. They specialise in developing tools, including the Variant Effect Predictor (VEP), for annotating and visualising variation data, including for the 1000 Genomes Project. She co-leads the Variant Annotation task team for the Global Alliance for Genomic Health project and is committed to open data and standards. In collaboration with the NCBI in the USA, Fiona leads the development of new reference sequences, called LRG (Locus Reference Genomic) sequences, the only stable data standard for reporting clinical variants. Prior to that she worked at the Sanger Institute on complex displays for interpreting variation data, and on the HapMap Project website in Lincoln Stein’s lab at Cold Spring Harbor, NY, USA.
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