Research Topics
Genomes and Genes | Janna SaarelaSummaryAffiliation: University of Helsinki Country: Finland Publications
| Collaborators
|
Detail Information
Publications
Comparison of solution-based exome capture methods for next generation sequencingAnna Maija Sulonen
Institute for Molecular Medicine Finland FIMM, University of Helsinki, Biomedicum Helsinki 2U, Tukholmankatu 8, 00290 Helsinki, Finland
Genome Biol 12:R94. 2011..A control DNA sample was captured with all four capture methods and prepared for Illumina GAII sequencing. Sequence data from additional samples prepared with the same protocols were also used in the comparison...
Allelic variants of IL1R1 gene associate with severe hand osteoarthritisAnnu Näkki
Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
BMC Med Genet 11:50. 2010..In this study we targeted a 470 kb region on 2q11.2 presenting the locus with most evidence for linkage to severe OA of distal interphalangeal joints (DIP) in our genome wide scan families...
No evidence for shared etiology in two demyelinative disorders, MS and PLOSLAnna Maija Sulonen
Finnish Institute for Molecular Medicine, FIMM, and National Public Health Institute, Biomedicum, Helsinki, Finland
J Neuroimmunol 206:86-90. 2009..To conclude, the DAP12-TREM2 complex unlikely has a role in genetic susceptibility of MS...
Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MSSuvi P Kallio
Finnish Institute for Molecular Medicine, Biomedicum, Helsinki, Finland
Hum Mol Genet 18:1670-83. 2009..These results suggest that the MS predisposing locus on 5p is more complex than assumed and exemplify power of population isolates in the identification of rare disease alleles...
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 geneEveliina Jakkula
Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
Am J Hum Genet 86:285-91. 2010..This study also demonstrates the potential of special isolated populations in search for variants contributing to complex traits...
Gender differences in genetic risk profiles for cardiovascular diseaseKaisa Silander
Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
PLoS ONE 3:e3615. 2008..We aimed to estimate whether the genetic risk profiles of coronary heart disease (CHD), ischemic stroke and the composite end-point of CVD differ between the genders...
Candidate gene association study of magnetic resonance imaging-based hip osteoarthritis (OA): evidence for COL9A2 gene as a common predisposing factor for hip OA and lumbar disc degenerationAnnu Näkki
Institute for Molecular Medicine Finland FIMM, Biomedicum Helsinki 2U, University of Helsinki, Helsinki, Finland
J Rheumatol 38:747-52. 2011..To study whether gene variants associated with lumbar disc degeneration (LDD) phenotypes are also associated with hip osteoarthritis (OA)...
Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studiesKati Komulainen
Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland
PLoS Genet 2:e69. 2006....
A quality assessment survey of SNP genotyping laboratoriesPaivi Lahermo
Finnish Genome Center, University of Helsinki, Helsinki, Finland
Hum Mutat 27:711-4. 2006..Lessons from the survey are that special attention should be given to the quality of the DNA samples prior to genotyping, and that a conservative approach for calling the genotypes should be used to achieve a high accuracy...
MYO9B polymorphisms in multiple sclerosisAnu Kemppinen
Department of Molecular Medicine, National Public Health Institute and Institute for Molecular Medicine Finland, FIMM, Helsinki, Finland
Eur J Hum Genet 17:840-3. 2009..Our results thereby do not support a major function of the tested MYO9B variants in MS...
Evaluating whole genome amplification via multiply-primed rolling circle amplification for SNP genotyping of samples with low DNA yieldKaisa Silander
Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
Twin Res Hum Genet 8:368-75. 2005..Thus, WGA is applicable for low DNA yield samples, especially if using pooled WGA samples. A higher rate of genotyping errors requires that increased attention be paid to genotyping quality control, and caution when interpreting results...
Interleukin 1 polymorphisms and intervertebral disc degenerationSvetlana Solovieva
Department of Epidemiology and Biostatistics, Finnish Institute of Occupational Health, Helsinki, Finland
Epidemiology 15:626-33. 2004..We investigated whether polymorphisms within the IL-1 gene locus are associated with lumbar disc degeneration and whether the effect of occupational physical load on disc degeneration is modified by the polymorphisms...
PRKCA and multiple sclerosis: association in two independent populationsJanna Saarela
Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
PLoS Genet 2:e42. 2006....
Somatic STAT3 mutations in large granular lymphocytic leukemiaHanna L M Koskela
Hematology Research Unit Helsinki, Department of Medicine, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
N Engl J Med 366:1905-13. 2012....
Whole genome amplification with Phi29 DNA polymerase to enable genetic or genomic analysis of samples of low DNA yieldKaisa Silander
National Public Health Institute, Helsinki, Finland
Methods Mol Biol 439:1-18. 2008..This chapter reviews the various applications in which whole genome amplified DNA can be used, the types of commercial kits available, and the quality control steps necessary before using the DNA in the genetic studies...
