Browsing Wolfson Institute of Preventive Medicine by Subject "Databases, Genetic"
Now showing items 1-6 of 6
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Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood.
(2018-06-07)Genetic correlation is a key population parameter that describes the shared genetic architecture of complex traits and diseases. It can be estimated by current state-of-art methods, i.e., linkage disequilibrium score ... -
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.
(2009-06)Translating a set of disease regions into insight about pathogenic mechanisms requires not only the ability to identify the key disease genes within them, but also the biological relationships among those key genes. Here ... -
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
(Elsevier, 2017-12-20)SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public ... -
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
(2014-09)GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal ... -
Polygenic risk score for schizophrenia is more strongly associated with ancestry than with schizophrenia.
(2018-10)BACKGROUND: The polygenic risk score (PRS) for schizophrenia, derived from very large numbers of weakly associated genetic markers, has been repeatedly shown to be robustly associated with schizophrenia in independent ... -
Weighted Burden Analysis of Exome-Sequenced Case-Control Sample Implicates Synaptic Genes in Schizophrenia Aetiology.
(2018-05)A previous study of exome-sequenced schizophrenia cases and controls reported an excess of singleton, gene-disruptive variants among cases, concentrated in particular gene sets. The dataset included a number of subjects ...