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  1. Article

    Open Access

    Quantification of tumour evolution and heterogeneity via Bayesian epiallele detection

    Epigenetic heterogeneity within a tumour can play an important role in tumour evolution and the emergence of resistance to treatment. It is increasingly recognised that the study of DNA methylation (DNAm) patt...

    James E. Barrett, Andrew Feber, Javier Herrero, Miljana Tanic in BMC Bioinformatics (2017)

  2. No Access

    Article

    Saturation analysis for whole-genome bisulfite sequencing data

    Emanuele Libertini, Simon C Heath, Rifat A Hamoudi, Marta Gut in Nature Biotechnology (2016)

  3. Article

    Open Access

    deconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution

    Analysis of somatic mutations provides insight into the mutational processes that have shaped the cancer genome, but such analysis currently requires large cohorts. We develop deconstructSigs, which allows the...

    Rachel Rosenthal, Nicholas McGranahan, Javier Herrero, Barry S. Taylor in Genome Biology (2016)

  4. Article

    Extending reference assembly models

    The human genome reference assembly is crucial for aligning and analyzing sequence data, and for genome annotation, among other roles. However, the models and analysis assumptions that underlie the current ass...

    Deanna M Church, Valerie A Schneider, Karyn Meltz Steinberg in Genome Biology (2015)

  5. Article

    Open Access

    Analysis of variation at transcription factor binding sites in Drosophila and humans

    Advances in sequencing technology have boosted population genomics and made it possible to map the positions of transcription factor binding sites (TFBSs) with high precision. Here we investigate TFBS variabil...

    Mikhail Spivakov, Junaid Akhtar, Pouya Kheradpour, Kathryn Beal in Genome Biology (2012)

  6. Article

    Erratum to: Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

    Marilyn B Renfree, Anthony T Papenfuss, Janine E Deakin, James Lindsay in Genome Biology (2011)

  7. Article

    Open Access

    Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

    We present the genome sequence of the tammar wallaby, Macropus eugenii, which is a member of the kangaroo family and the first representative of the iconic hop** mammals that symbolize Australia to be sequenced...

    Marilyn B Renfree, Anthony T Papenfuss, Janine E Deakin, James Lindsay in Genome Biology (2011)

  8. Article

    Considerations for the inclusion of 2x mammalian genomes in phylogenetic analyses

    A response to 2x genomes - depth does matter by MC Milinkovitch, R Helaers, E Depiereux, AC Tzika and T Gabaldón. Genome Biol2010, 11:R16.

    Albert J Vilella, Ewan Birney, Paul Flicek, Javier Herrero in Genome Biology (2011)

  9. Article

    Open Access

    eHive: An Artificial Intelligence workflow system for genomic analysis

    The Ensembl project produces updates to its comparative genomics resources with each of its several releases per year. During each release cycle approximately two weeks are allocated to generate all the genomi...

    Jessica Severin, Kathryn Beal, Albert J Vilella, Stephen Fitzgerald in BMC Bioinformatics (2010)

  10. No Access

    Article

    A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis

    An inability to estimate absolute DNA methylation levels has slowed progress in understanding the role of this epigenetic modification in health and disease. Down et al. describe an algorithm for analyzing methyl...

    Thomas A Down, Vardhman K Rakyan, Daniel J Turner, Paul Flicek in Nature Biotechnology (2008)

  11. No Access

    Chapter and Conference Paper

    Using Perceptrons for Supervised Classification of DNA Microarray Samples: Obtaining the Optimal Level of Information and Finding Differentially Expressed Genes

    The success of the application of neural networks to DNA microarray data comes from their efficiency in dealing with noisy data. Here we describe a combined approach that provides, at the same time, an accurat...

    Alvaro Mateos, Javier Herrero, Joaquín Dopazo in Artificial Neural Networks — ICANN 2002 (2002)