1,153 research outputs found

    Perola, Markus

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    Sequential double cross-validation for assessment of added predictive ability in high-dimensional omic applications

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    Enriching existing predictive models with new biomolecular markers is an important task in the new multi-omic era. Clinical studies increasingly include new sets of omic measurements which may prove their added value in terms of predictive performance. We introduce a two-step approach for the assessment of the added predictive ability of omic predictors, based on sequential double cross-validation and regularized regression models. We propose several performance indices to summarize the two-stage prediction procedure and a permutation test to formally assess the added predictive value of a second omic set of predictors over a primary omic source. The performance of the test is investigated through simulations. We illustrate the new method through the systematic assessment and comparison of the performance of transcriptomics and metabolomics sources in the prediction of body mass index (BMI) using longitudinal data from the Dietary, Lifestyle, and Genetic determinants of Obesity and Metabolic syndrome (DILGOM) study, a population-based cohort from Finland

    Millainen genomitietopankki Suomeen?

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    Tieteessä tapahtuu -lehden viime numerossa (8/2004) Kirsti Käpyaho, Leena Peltonen-Palotie, Markus Perola ja Tero Piispanen kirjoittivat vireillä olevasta hankkeesta perustaa erityinen genomitiedon tutkimuskeskus eli biopankki tai genomitietopankki Suomeen. Suunnitelma on kyllä periaatteessa kannatettava, mutta se on tavattoman suurisuuntainen ja liiaksi taloudelliseen voitontavoitteluun suuntautunut

    Genetics of Human Stature: Lessons from Genome-Wide Association Studies

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    Over the past 2 to 3 years, linkage disequilibrium mapping methods, or genome-wide association studies (GWAS), have made a seminal turn in the molecular genetic studies of complex human traits such as height, i.e., stature. Human stature is a highly heritable trait across populations and the phenotype for stature is easily measured and related to many other traits; therefore, it is available in most studies evaluating any phenotype. For this reason, it has become a beacon for large consortium genetic studies, during both the pre-GWAS and GWAS eras. Tens of thousands of genome-scanned individuals have been analysed together against their genome. Several loci have been implicated in association with stature (54 of these have been published), and most chromosomes have a locus linked to the trait in family studies. However, the prediction power of loci indentified by molecular genetic methods still remains inferior to clinical assessment of offspring stature using midparental height as a guide. Although the genomic methods provide important insights into heritability of stature, it will be a major challenge for molecular genetic studies to provide information that surpasses that of midparental height.</jats:p

    Sydän- ja verisuonitaudeille lukuisia alttiusgeenejä

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    Sydänterveyteen liittyvän perimän tutkimus KTL:ssa

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    Polygeeniset riskisummat

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    Molecular genetics of hypertension and related traits

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