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Benjamin J Raphael
Raphael B. Chapter 6: Structural variation and medical genomics. PLoS Comput Biol. 2012;8:e1002821
..We describe the genomic technologies and computational techniques currently used to measure SVs, focusing on applications in human and cancer genomics. ..
Parks M, Lawrence C, Raphael B. Detecting non-allelic homologous recombination from high-throughput sequencing data. Genome Biol. 2015;16:72
..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. ..
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
Weinreb C, Oesper L, Raphael B. Open adjacencies and k-breaks: detecting simultaneous rearrangements in cancer genomes. BMC Genomics. 2014;15 Suppl 6:S4
..These results lend support to the existence of simultaneous rearrangements, but also demonstrate the difficulty of characterizing such rearrangements using different criterion. ..
Matthew M Parks
Experts and Doctors on humans in Providence, Rhode Island, United States
Experts and Doctors on oligonucleotide array sequence analysis in Providence, Rhode Island, United States
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