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  1. Article

    Open Access

    Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases

    Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. Yet, many cases remain undiagnos...

    Elias L. Salfati, Emily G. Spencer, Sarah E. Topol, Evan D. Muse in Genome Medicine (2019)

  2. Article

    Open Access

    SG-ADVISER mtDNA: a web server for mitochondrial DNA annotation with data from 200 samples of a healthy aging cohort

    Whole genome and exome sequencing usually include reads containing mitochondrial DNA (mtDNA). Yet, state-of-the-art pipelines and services for human nuclear genome variant calling and annotation do not handle ...

    Manuel Rueda, Ali Torkamani in BMC Bioinformatics (2017)

  3. Article

    Open Access

    Conformational plasticity of RepB, the replication initiator protein of promiscuous streptococcal plasmid pMV158

    DNA replication initiation is a vital and tightly regulated step in all replicons and requires an initiator factor that specifically recognizes the DNA replication origin and starts replication. RepB from the ...

    D. Roeland Boer, José Angel Ruiz-Masó, Manuel Rueda in Scientific Reports (2016)

  4. Article

    Open Access

    BioSuper: A web tool for the superimposition of biomolecules and assemblies with rotational symmetry

    Most of the proteins in the Protein Data Bank (PDB) are oligomeric complexes consisting of two or more subunits that associate by rotational or helical symmetries. Despite the myriad of superimposition tools i...

    Manuel Rueda, Modesto Orozco, Maxim Totrov, Ruben Abagyan in BMC Structural Biology (2013)

  5. No Access

    Protocol

    Ligand-Guided Receptor Optimization

    Receptor models generated by homology or even obtained by crystallography often have their binding pockets suboptimal for ligand docking and virtual screening applications due to insufficient accuracy or induc...

    Vsevolod Katritch, Manuel Rueda, Ruben Abagyan in Homology Modeling (2012)

  6. Article

    Open Access

    Comparison of molecular dynamics and superfamily spaces of protein domain deformation

    It is well known the strong relationship between protein structure and flexibility, on one hand, and biological protein function, on the other hand. Technically, protein flexibility exploration is an essential...

    Javier A Velázquez-Muriel, Manuel Rueda, Isabel Cuesta in BMC Structural Biology (2009)

  7. No Access

    Chapter

    Data Mining of Molecular Dynamic Trajectories of Nucleic Acids

    Modesto Orozco, Agnes Noy, Tim Meyer, Manuel Rueda in Computational Studies of RNA and DNA (2006)