Research Topics
Genomes and Genes | A J BrookesSummaryCountry: Sweden Publications
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Detail Information
Publications
HGBASE: a database of SNPs and other variations in and around human genesA 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..
Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validationJ 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...
SNP association studies in Alzheimer's disease highlight problems for complex disease analysisT Emahazion
Center for Genomics Research, Karolinska Institute, , S-171 77, Stockholm, Sweden
Trends Genet 17:407-13. 2001....
HGVbase: a curated resource describing human DNA variation and phenotype relationshipsD Fredman
Center for Genomics and Bioinformatics, Karolinska Institute, , 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...
DFold: PCR design that minimizes secondary structure and optimizes downstream genotyping applicationsDavid 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...
Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's diseaseJ A Prince
Center for Genomics Research, Karolinska Institute, Stockholm, Sweden
Eur J Hum Genet 9:437-44. 2001....
HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sourcesD Fredman
Center for Genomics and Bioinformatics, Karolinska Institute, , S171 77 Stockholm, Sweden
Nucleic Acids Res 30:387-91. 2002....
Towards high-throughput genotyping of SNPs by dynamic allele-specific hybridizationJ 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...
Rethinking genetic strategies to study complex diseasesA 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...
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 geneL 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...
Identification of 167 polymorphisms in 88 genes from candidate neurodegeneration pathwaysT 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...
Evidence for an important role of perilipin in the regulation of human adipocyte lipolysisS 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...
A novel screen for nuclear mitochondrial gene associations with Parkinson's diseaseG 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...
