Dr Ruth Eberhardt | Senior Bioinformatician

Eberhardt, Ruth

I am the bioinformatician for the Prenatal Assessment of Genomes and Exomes (PAGE) study. The PAGE study aims to identify genetic causes of fetal structural abnormalities.

The PAGE study is a UK-wide study aiming to identify causative genetic variants where fetal structural abnormalities have been identified by ultrasound. Detailed analysis will be performed using whole exome and whole genome sequencing of 1000 affected fetuses and their parents, and bioinformatics tools will be used to distinguish potentially pathogenic variants from background genetic variation. The long term aims of this study are to improve prenatal diagnostics and to enable more informed prenatal counselling.

Publications

  • Rfam 12.0: updates to the RNA families database.

    Nawrocki EP, Burge SW, Bateman A, Daub J, Eberhardt RY et al.

    Nucleic acids research 2015;43;Database issue;D130-7

  • Pfam: the protein families database.

    Finn RD, Bateman A, Clements J, Coggill P, Eberhardt RY et al.

    Nucleic acids research 2014;42;Database issue;D222-30

  • The SHOCT domain: a widespread domain under-represented in model organisms.

    Eberhardt RY, Bartholdson SJ, Punta M and Bateman A

    PloS one 2013;8;2;e57848

  • Filling out the structural map of the NTF2-like superfamily.

    Eberhardt RY, Chang Y, Bateman A, Murzin AG, Axelrod HL et al.

    BMC bioinformatics 2013;14;327

  • Primary sequence and enzymic properties of two modular endoglucanases, Cel5A and Cel45A, from the anaerobic fungus Piromyces equi.

    Eberhardt RY, Gilbert HJ and Hazlewood GP

    Microbiology (Reading, England) 2000;146 ( Pt 8);1999-2008

  • Rfam 12.0: updates to the RNA families database.

    Nawrocki EP, Burge SW, Bateman A, Daub J, Eberhardt RY et al.

    Nucleic acids research 2015;43;Database issue;D130-7

  • Pfam: the protein families database.

    Finn RD, Bateman A, Clements J, Coggill P, Eberhardt RY et al.

    Nucleic acids research 2014;42;Database issue;D222-30

  • Filling out the structural map of the NTF2-like superfamily.

    Eberhardt RY, Chang Y, Bateman A, Murzin AG, Axelrod HL et al.

    BMC bioinformatics 2013;14;327

  • The SHOCT domain: a widespread domain under-represented in model organisms.

    Eberhardt RY, Bartholdson SJ, Punta M and Bateman A

    PloS one 2013;8;2;e57848

  • From protein sequences to 3D-structures and beyond: the example of the UniProt knowledgebase.

    Hinz U and UniProt Consortium

    Cellular and molecular life sciences : CMLS 2010;67;7;1049-64

  • The Universal Protein Resource (UniProt) in 2010.

    UniProt Consortium

    Nucleic acids research 2010;38;Database issue;D142-8

  • The Universal Protein Resource (UniProt) 2009.

    UniProt Consortium

    Nucleic acids research 2009;37;Database issue;D169-74

  • Priorities for nucleotide trace, sequence and annotation data capture at the Ensembl Trace Archive and the EMBL Nucleotide Sequence Database.

    Cochrane G, Akhtar R, Aldebert P, Althorpe N, Baldwin A et al.

    Nucleic acids research 2008;36;Database issue;D5-12

  • EMBL Nucleotide Sequence Database in 2006.

    Kulikova T, Akhtar R, Aldebert P, Althorpe N, Andersson M et al.

    Nucleic acids research 2007;35;Database issue;D16-20

  • EMBL Nucleotide Sequence Database: developments in 2005.

    Cochrane G, Aldebert P, Althorpe N, Andersson M, Baker W et al.

    Nucleic acids research 2006;34;Database issue;D10-5

  • The EMBL Nucleotide Sequence Database.

    Kanz C, Aldebert P, Althorpe N, Baker W, Baldwin A et al.

    Nucleic acids research 2005;33;Database issue;D29-33

  • The EMBL Nucleotide Sequence Database.

    Kulikova T, Aldebert P, Althorpe N, Baker W, Bates K et al.

    Nucleic acids research 2004;32;Database issue;D27-30

  • Characterization of a cellulosome dockerin domain from the anaerobic fungus Piromyces equi.

    Raghothama S, Eberhardt RY, Simpson P, Wigelsworth D, White P et al.

    Nature structural biology 2001;8;9;775-8

  • alpha-Galactosidase A from Pseudomonas fluorescens subsp. cellulosa: cloning, high level expression and its role in galactomannan hydrolysis.

    Halstead JR, Fransen MP, Eberhart RY, Park AJ, Gilbert HJ and Hazlewood GP

    FEMS microbiology letters 2000;192;2;197-203

  • Development and evaluation of ELISA procedures to detect antibodies against the major envelope protein (G(L)) of equine arteritis virus.

    Nugent J, Sinclair R, deVries AA, Eberhardt RY, Castillo-Olivares J et al.

    Journal of virological methods 2000;90;2;167-83

  • Primary sequence and enzymic properties of two modular endoglucanases, Cel5A and Cel45A, from the anaerobic fungus Piromyces equi.

    Eberhardt RY, Gilbert HJ and Hazlewood GP

    Microbiology (Reading, England) 2000;146 ( Pt 8);1999-2008

Eberhardt, Ruth