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Cleft lip and palate: understanding genetic and environmental influences
Using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP.
Sensitive Detection of Chromosomal Segments of Distinct Ancestry in Admixed Populations
HAPMIX will be of particular utility for mapping disease genes in recently admixed populations, as its accurate estimates of local ancestry permit admixture and case-control association signals to be combined, enabling more powerful tests of association than with either signal alone.
Mendelian inheritance of familial prostate cancer.
- B. Carter, T. Beaty, G. Steinberg, B. Childs, P. Walsh
- MedicineProceedings of the National Academy of Sciences…
- 15 April 1992
Evidence is provided that prostate cancer is inherited in Mendelian fashion in a subset of families and provide a foundation for gene mapping studies of heritable prostate cancer.
Genetic Epidemiology of COPD (COPDGene) Study Design
CPDGene will provide important new information about genetic factors in COPD, and will characterize the disease process using high resolution CT scans, which will potentially permit earlier diagnosis of this disease and may lead to the development of treatments to modify progression.
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Replication studies from several populations showed confirming evidence, with families of European ancestry giving strong evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4, and expression studies support a role for MAFBs in palatal development.
Hereditary prostate cancer: epidemiologic and clinical features.
Major Susceptibility Locus for Prostate Cancer on Chromosome 1 Suggested by a Genome-Wide Search
The data provide strong evidence of a major prostate cancer susceptibility locus on chromosome 1, and an additional set of 25 North American and Swedish families with markers in this region resulted in significant evidence of linkage in the combined set of 91 families.
Pulmonary arterial enlargement and acute exacerbations of COPD.
Pulmonary artery enlargement (a PA:A ratio of >1), as detected by CT, was associated with severe exacerbations of COPD.
The PhenX Toolkit: Get the Most From Your Measures
The PhenX Toolkit provides the research community with a core set of high-quality, well-established, low-burden measures intended for use in large-scale genomic studies and includes links to standards and resources in an effort to facilitate data harmonization to legacy data.
Fundamentals of Genetic Epidemiology
This paper presents a meta-analysis of the literature on genetic epidemiology and its applications in medicine and public health and describes the current state of the science as well as some of the approaches taken.