A J Brookes

Summary

Country: Sweden

Publications

  1. pmc HGBASE: a database of SNPs and other variations in and around human genes
    A J Brookes
    Center for Genomics Research, Karolinska Institute, Theorells väg 3, S 171 77 Stockholm, Sweden
    Nucleic Acids Res 28:356-60. 2000
  2. pmc Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation
    J A Prince
    Center for Genomics Research, Karolinska Institute, Stockholm, Sweden
    Genome Res 11:152-62. 2001
  3. ncbi request reprint SNP association studies in Alzheimer's disease highlight problems for complex disease analysis
    T Emahazion
    Center for Genomics Research, Karolinska Institute, , S-171 77, Stockholm, Sweden
    Trends Genet 17:407-13. 2001
  4. pmc HGVbase: a curated resource describing human DNA variation and phenotype relationships
    D Fredman
    Center for Genomics and Bioinformatics, Karolinska Institute, Berzelius vag 35, S 171 77 Stockholm, Sweden
    Nucleic Acids Res 32:D516-9. 2004
  5. ncbi request reprint DFold: PCR design that minimizes secondary structure and optimizes downstream genotyping applications
    David Fredman
    Center for Genomics and Bioinformatics, Karolinska Institute, Stockholm, Sweden
    Hum Mutat 24:1-8. 2004
  6. pmc HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources
    D Fredman
    Center for Genomics and Bioinformatics, Karolinska Institute, Berzelius Väg, S171 77 Stockholm, Sweden
    Nucleic Acids Res 30:387-91. 2002
  7. ncbi request reprint Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease
    J A Prince
    Center for Genomics Research, Karolinska Institute, Stockholm, Sweden
    Eur J Hum Genet 9:437-44. 2001
  8. ncbi request reprint Towards high-throughput genotyping of SNPs by dynamic allele-specific hybridization
    J A Prince
    Center for Genomics Research, Karolinska Institute, Theorells väg 3, S 171 77, Stockholm, Sweden
    Expert Rev Mol Diagn 1:352-8. 2001
  9. ncbi request reprint Rethinking genetic strategies to study complex diseases
    A J Brookes
    Center for Genomics and Bioinformatics, Karolinska Institute, Theorells väg 3, S 171 77, Stockholm, Sweden
    Trends Mol Med 7:512-6. 2001
  10. ncbi request reprint apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease: finding of a positive association for a polymorphism in the TNFRSF6 gene
    L Feuk
    Center for Genomics Research, Karolinska Institute, Stockholm, Sweden
    Hum Genet 107:391-6. 2000

Collaborators

Detail Information

Publications13

  1. pmc HGBASE: a database of SNPs and other variations in and around human genes
    A J Brookes
    Center for Genomics Research, Karolinska Institute, Theorells väg 3, S 171 77 Stockholm, Sweden
    Nucleic Acids Res 28:356-60. 2000
    ..The fully polished and comprehensive database is made freely available to all at http://hgbase.cgr.ki.se..
  2. pmc Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation
    J A Prince
    Center for Genomics Research, Karolinska Institute, Stockholm, Sweden
    Genome Res 11:152-62. 2001
    ..9%. No post-PCR assay failures were encountered. These findings, along with intrinsic low cost and high flexibility, validate DASH as an effective procedure for SNP genotyping...
  3. ncbi request reprint SNP association studies in Alzheimer's disease highlight problems for complex disease analysis
    T Emahazion
    Center for Genomics Research, Karolinska Institute, , S-171 77, Stockholm, Sweden
    Trends Genet 17:407-13. 2001
    ....
  4. pmc HGVbase: a curated resource describing human DNA variation and phenotype relationships
    D Fredman
    Center for Genomics and Bioinformatics, Karolinska Institute, Berzelius vag 35, S 171 77 Stockholm, Sweden
    Nucleic Acids Res 32:D516-9. 2004
    ..This report describes the evolving features of HGVbase, and covers in detail the technological choices we have made to enable efficient storage and data mining of increasingly large and complex data sets...
  5. ncbi request reprint DFold: PCR design that minimizes secondary structure and optimizes downstream genotyping applications
    David Fredman
    Center for Genomics and Bioinformatics, Karolinska Institute, Stockholm, Sweden
    Hum Mutat 24:1-8. 2004
    ..We further consider how the system throughput may be made sufficiently high for use upon millions of target sequences in order to support whole-genome analyses...
  6. pmc HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources
    D Fredman
    Center for Genomics and Bioinformatics, Karolinska Institute, Berzelius Väg, S171 77 Stockholm, Sweden
    Nucleic Acids Res 30:387-91. 2002
    ....
  7. ncbi request reprint Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease
    J A Prince
    Center for Genomics Research, Karolinska Institute, Stockholm, Sweden
    Eur J Hum Genet 9:437-44. 2001
    ....
  8. ncbi request reprint Towards high-throughput genotyping of SNPs by dynamic allele-specific hybridization
    J A Prince
    Center for Genomics Research, Karolinska Institute, Theorells väg 3, S 171 77, Stockholm, Sweden
    Expert Rev Mol Diagn 1:352-8. 2001
    ..Commercial DASH devices are now available, making the technology affordably accessible for all laboratories...
  9. ncbi request reprint Rethinking genetic strategies to study complex diseases
    A J Brookes
    Center for Genomics and Bioinformatics, Karolinska Institute, Theorells väg 3, S 171 77, Stockholm, Sweden
    Trends Mol Med 7:512-6. 2001
    ..Community standards and open data sharing will be essential ingredients for success in this exciting 21st-century challenge...
  10. ncbi request reprint apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease: finding of a positive association for a polymorphism in the TNFRSF6 gene
    L Feuk
    Center for Genomics Research, Karolinska Institute, Stockholm, Sweden
    Hum Genet 107:391-6. 2000
    ..These results imply that TNFRSF6, in interaction with APOE4, is a genetic risk factor for sporadic EOAD. Hence, the AD risk contributed by APOE4 could be mechanistically related to a pathway in common with FAS-mediated apoptosis...
  11. ncbi request reprint Identification of 167 polymorphisms in 88 genes from candidate neurodegeneration pathways
    T Emahazion
    Center for Genomics Research, Karolinska Institute, Stockholm, Sweden
    Gene 238:315-24. 1999
    ..These findings now provide a valuable resource for association studies in neurodegenerative disorders such as Alzheimer's disease and Parkinson's disease...
  12. ncbi request reprint Evidence for an important role of perilipin in the regulation of human adipocyte lipolysis
    S Mottagui-Tabar
    Department of Medicine, Karolinska Institutet, Stockholm, Sweden
    Diabetologia 46:789-97. 2003
    ..We investigated the role of the adipocyte-specific protein perilipin for lipolysis in humans...
  13. ncbi request reprint A novel screen for nuclear mitochondrial gene associations with Parkinson's disease
    G D Mellick
    University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Australia
    J Neural Transm 111:191-9. 2004
    ..There was no evidence that the examined SNPs were significant genetic risk factors for PD, although this initial screen could not exclude the possibility that other disease-influencing variations exist within these genes...