Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

T Zemojtel, S Köhler, L Mackenroth, M Jäger… - Science translational …, 2014 - science.org
… However, the diagnostic yield remains less than 50% even after extensive workups (5), with
the costs of clinical and molecular genetic analysis for patients whose diagnosis is not clear …

[HTML][HTML] Genetic analysis of autoimmune disease

TJ Vyse, JA Todd - Cell, 1996 - cell.com
… Mice are the model of choice for mammalian genetic analysis ( … In themselves, map positions
are important because they suggest candidate genes already mapped to the disease gene

[HTML][HTML] Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations

SL Robinette, E Holmes, JK Nicholson, ME Dumas - Genome medicine, 2012 - Springer
… the quantitative genetic analysis of gene-expression profiles, referred to as genetical
genomics [69] or expression QTL (eQTL) mapping [70]. Treating genome-wide gene-expression …

[HTML][HTML] Genetic variation in the social environment contributes to health and disease

A Baud, MK Mulligan, FP Casale, JF Ingels… - … genetics, 2017 - journals.plos.org
… Although the large number of tests limits the statistical power to detect SGE on individual
genes (12,898 genes tested), we identified three genes with significant effects (Srsf2, Phlpp2, …

Gene polymorphisms in periodontal health and disease.

S Takashiba, K Naruishi - Periodontology 2000, 2006 - search.ebscohost.com
… This review also discusses the potential of comprehensive genetic analyses to decipher the
relationship between perio- dontal disease and environmental factors. Table 1 summarizes …

[HTML][HTML] On the genetic interpretation of disease data

SC Bishop, JA Woolliams - PloS one, 2010 - journals.plos.org
… The understanding of host genetic variation in disease … for a genetic interpretation of field
disease data, for diseases caused … introduce epidemiological concepts to quantitative genetics. …

The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis

GJ Hollands, DP French, SJ Griffin, AT Prevost… - bmj, 2016 - bmj.com
disease risk estimates will only translate into health benefits if acting on them modifies disease
outcomes, and if those informed of these genetic … nicating DNA based disease risks are …

From genes to public health: the applications of genetic technology in disease prevention

MJ Khoury - The Ethics of Public Health, Volumes I and II, 2018 - taylorfrancis.com
… in family studies to identify disease and susceptibility genes. These studies, which arc … , rely
on the usc of genetic analysis methods such as linkage and segregation analyses. A notable …

[HTML][HTML] Genetic variants regulating immune cell levels in health and disease

V Orrù, M Steri, G Sole, C Sidore, F Virdis, M Dei, S Lai… - Cell, 2013 - cell.com
… result in autoimmune disease. Both genetic regulation of immune cell levels and their
relationships with autoimmunity are largely undetermined. Here, we report genetic contributions to …

[PDF][PDF] Population analysis of large copy number variants and hotspots of human genetic disease

A Itsara, GM Cooper, C Baker, S Girirajan, J Li… - … of Human Genetics, 2009 - cell.com
… We describe one of the first analyses of large CNVs segregating at rare frequencies (0.1%–1…
information in a disease study, and implications of our results for future genetic analyses. …