Research Topics

Benjamin J Raphael


Affiliation: Brown University
Country: USA


  1. Raphael B. Chapter 6: Structural variation and medical genomics. PLoS Comput Biol. 2012;8:e1002821 pubmed publisher
    ..We describe the genomic technologies and computational techniques currently used to measure SVs, focusing on applications in human and cancer genomics. ..
  2. Parks M, Lawrence C, Raphael B. Detecting non-allelic homologous recombination from high-throughput sequencing data. Genome Biol. 2015;16:72 pubmed publisher
    ..These calls segregate by ancestry, are more common in closely spaced repeats, often result in duplicated genes or pseudogenes, and affect highly studied genes such as GBA and CYP2E1. ..
  3. El Kebir M, Satas G, Oesper L, Raphael B. Inferring the Mutational History of a Tumor Using Multi-state Perfect Phylogeny Mixtures. Cell Syst. 2016;3:43-53 pubmed publisher
  4. Weinreb C, Oesper L, Raphael B. Open adjacencies and k-breaks: detecting simultaneous rearrangements in cancer genomes. BMC Genomics. 2014;15 Suppl 6:S4 pubmed publisher
    ..These results lend support to the existence of simultaneous rearrangements, but also demonstrate the difficulty of characterizing such rearrangements using different criterion. ..