Jorge Duitama

Summary

Publications

  1. pmc Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of Single Individual Haplotyping techniques
    Jorge Duitama
    Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Ihnestr 63 73, D 14195 Berlin, Germany
    Nucleic Acids Res 40:2041-53. 2012
  2. ncbi Towards accurate detection and genotyping of expressed variants from whole transcriptome sequencing data
    Jorge Duitama
    Department of Computer Science and Engineering, University of Connecticut, 371 Fairfield Rd, Unit 2155, Storrs, CT, 06269 2155, USA
    BMC Genomics 13:S6. 2012
  3. pmc A comprehensively molecular haplotype-resolved genome of a European individual
    Eun Kyung Suk
    Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
    Genome Res 21:1672-85. 2011
  4. pmc Linkage disequilibrium based genotype calling from low-coverage shotgun sequencing reads
    Jorge Duitama
    Department of Computer Science and Engineering, University of Connecticut, 371 Fairfield Rd, Unit 2155, Storrs, CT 06269 2155, USA
    BMC Bioinformatics 12:S53. 2011

Detail Information

Publications4

  1. pmc Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of Single Individual Haplotyping techniques
    Jorge Duitama
    Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Ihnestr 63 73, D 14195 Berlin, Germany
    Nucleic Acids Res 40:2041-53. 2012
    ..This improvement includes notable fractions of disease-related and GWA SNPs. Integrated with other molecular biological data sets, this phase information will advance the emerging field of diploid genomics...
  2. ncbi Towards accurate detection and genotyping of expressed variants from whole transcriptome sequencing data
    Jorge Duitama
    Department of Computer Science and Engineering, University of Connecticut, 371 Fairfield Rd, Unit 2155, Storrs, CT, 06269 2155, USA
    BMC Genomics 13:S6. 2012
    ..Furthermore, detection and genotyping of single nucleotide variants (SNVs) requires statistical models that are robust to variability in read coverage due to unequal transcript expression levels...
  3. pmc A comprehensively molecular haplotype-resolved genome of a European individual
    Eun Kyung Suk
    Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
    Genome Res 21:1672-85. 2011
    ..MP1's annotated haploid genomes are available as a public resource...
  4. pmc Linkage disequilibrium based genotype calling from low-coverage shotgun sequencing reads
    Jorge Duitama
    Department of Computer Science and Engineering, University of Connecticut, 371 Fairfield Rd, Unit 2155, Storrs, CT 06269 2155, USA
    BMC Bioinformatics 12:S53. 2011
    ..Recent technology advances have enabled sequencing of individual genomes, promising to revolutionize biomedical research. However, deep sequencing remains more expensive than microarrays for performing whole-genome SNP genotyping...