Jacqui White

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Turning genetic discoveries identified in genome-wide association (GWA) studies into biological mechanisms is an important challenge in human genetics. Many GWA signals map outside exons, suggesting that the associated variants may lie within regulatory regions. We applied the formaldehyde-assisted isolation of regulatory elements (FAIRE) method in a(More)
Two large-scale phenotyping efforts, the European Mouse Disease Clinic (EUMODIC) and the Wellcome Trust Sanger Institute Mouse Genetics Project (SANGER-MGP), started during the late 2000s with the aim to deliver a comprehensive assessment of phenotypes or to screen for robust indicators of diseases in mouse mutants. They both took advantage of available(More)
The function of the majority of genes in the mouse and human genomes remains unknown. The mouse embryonic stem cell knockout resource provides a basis for the characterization of relationships between genes and phenotypes. The EUMODIC consortium developed and validated robust methodologies for the broad-based phenotyping of knockouts through a pipeline(More)
The broad aim of biomedical science in the postgenomic era is to link genomic and phenotype information to allow deeper understanding of the processes leading from genomic changes to altered phenotype and disease. The EuroPhenome project (http://www.EuroPhenome.org) is a comprehensive resource for raw and annotated high-throughput phenotyping data arising(More)
Understanding the functions encoded in the mouse genome will be central to an understanding of the genetic basis of human disease. To achieve this it will be essential to be able to characterize the phenotypic consequences of variation and alterations in individual genes. Data on the phenotypes of mouse strains are currently held in a number of different(More)
Stem cell differentiation and lineage specification depend on coordinated programs of gene expression, but our knowledge of the chromatin-modifying factors regulating these events remains incomplete. Ubiquitination of histone H2A (H2A-K119u) is a common chromatin modification associated with gene silencing, and controlled by the ubiquitin-ligase polycomb(More)
Background: Identifying genes that are essential for mouse embryonic development and survival through term is a powerful and unbiased way to discover possible genetic determinants of human developmental disorders. Characterising the changes in mouse embryos that result from ablation of lethal genes is a necessary first step towards uncovering their role in(More)
John M. Hancock Æ Niels C. Adams Æ Vassilis Aidinis Æ Andrew Blake Æ Judith A. Blake Æ Molly Bogue Æ Steve D. M. Brown Æ Elissa J. Chesler Æ Duncan Davidson Æ Christopher Duran Æ Janan T. Eppig Æ Valérie Gailus-Durner Æ Hilary Gates Æ Georgios V. Gkoutos Æ Simon Greenaway Æ Martin Hrabé de Angelis Æ George Kollias Æ Sophie Leblanc Æ Kirsty Lee Æ Christoph(More)
* The Mouse Phenotype Database Integration Consortium currently comprises: John M. Hancock, Niels C. Adams, Vassilis Aidinis, Andrew Blake, Judith A. Blake, Molly Bogue, Steve D.M. Brown, Elissa Chesler, Duncan Davidson, Christopher Duran, Janan T. Eppig, Valérie Gailus-Durner, Hilary Gates, Georgios V. Gkoutos, Simon Greenaway, Martin Hrabé de Angelis,(More)