Hongbo M Xie

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. pmc Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy
    Hongbo M Xie
    Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    BMC Bioinformatics 12:402. 2011
  2. pmc Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes
    Daria V Babushok
    Division of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA Comprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Br J Haematol 164:73-82. 2014
  3. pmc CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics
    Xiaowu Gai
    Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    BMC Bioinformatics 11:74. 2010
  4. doi request reprint The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions
    Lisa C A D'Alessandro
    The Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA, USA Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    Congenit Heart Dis 9:83-6. 2014

Collaborators

Detail Information

Publications4

  1. pmc Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy
    Hongbo M Xie
    Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    BMC Bioinformatics 12:402. 2011
    ....
  2. pmc Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes
    Daria V Babushok
    Division of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA Comprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Br J Haematol 164:73-82. 2014
    ..Our analysis of clinical utility of SNP-A shows the highest yield of detecting new clonal haematopoiesis at diagnosis and at relapse. ..
  3. pmc CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics
    Xiaowu Gai
    Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    BMC Bioinformatics 11:74. 2010
    ..However, few informatics tools for accurate and efficient CNV detection and assessment currently exist...
  4. doi request reprint The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions
    Lisa C A D'Alessandro
    The Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA, USA Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    Congenit Heart Dis 9:83-6. 2014
    ..A large microdeletion at 16p12.1 is associated with childhood developmental delay, and initial studies describing this deletion identified left-sided lesions as an enriched phenotype compared with a control population...