Search Results - "Risch, Neil J."
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Searching for genetic determinants in the new millennium
Published in Nature (London) (15-06-2000)“…Human genetics is now at a critical juncture. The molecular methods used successfully to identify the genes underlying rare mendelian syndromes are failing to…”
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Structured mating: Patterns and implications
Published in PLoS genetics (06-04-2017)“…Genetic similarity of spouses can reflect factors influencing mate choice, such as physical/behavioral characteristics, and patterns of social endogamy. Spouse…”
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3
Estimation of individual admixture: Analytical and study design considerations
Published in Genetic epidemiology (01-05-2005)“…The genome of an admixed individual represents a mixture of alleles from different ancestries. In the United States, the two largest minority groups,…”
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Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations
Published in American journal of human genetics (06-06-2013)“…Blood lipid concentrations are heritable risk factors associated with atherosclerosis and cardiovascular diseases. Lipid traits exhibit considerable variation…”
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Recent Genetic Selection in the Ancestral Admixture of Puerto Ricans
Published in American journal of human genetics (01-09-2007)“…Recent studies have used dense markers to examine the human genome in ancestrally homogeneous populations for hallmarks of selection. No genomewide studies…”
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Candidate-gene approaches for studying complex genetic traits: practical considerations
Published in Nature reviews. Genetics (01-05-2002)“…Association studies with candidate genes have been widely used for the study of complex diseases. However, this approach has been criticized because of…”
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Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia
Published in American journal of human genetics (01-06-2007)“…A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers. To gain…”
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Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies
Published in American journal of human genetics (01-02-2005)“…We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of…”
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The early-onset torsion dystonia gene ( DYT1 ) encodes an ATP-binding protein
Published in Nature genetics (01-09-1997)“…Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result…”
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Genetic admixture and asthma-related phenotypes in Mexican American and Puerto Rican asthmatics
Published in Genetic epidemiology (01-07-2005)“…Genetic association studies in admixed populations may be biased if individual ancestry varies within the population and the phenotype of interest is…”
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Challenges in providing residual risks in carrier testing
Published in Prenatal diagnosis (01-08-2021)“…The probability an individual is a carrier for a recessive disorder despite a negative carrier test, referred to as residual risk, has been part of carrier…”
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Tree-Structured Supervised Learning and the Genetics of Hypertension
Published in Proceedings of the National Academy of Sciences - PNAS (20-07-2004)“…This paper is about an algorithm, FlexTree, for general supervised learning. It extends the binary tree-structured approach (Classification and Regression…”
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A genome-wide scan in forty large pedigrees with multiple sclerosis
Published in Journal of human genetics (01-12-2007)“…The epidemiology of multiple sclerosis suggests that a complex interaction of genes and environment contribute to susceptibility. To enrich for families with…”
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Testing for non-random mating: evidence for ancestry-related assortative mating in the Framingham heart study
Published in Genetic epidemiology (01-11-2010)“…Population stratification leads to a predictable phenomenon—a reduction in the number of heterozygotes compared to that calculated assuming Hardy‐Weinberg…”
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Genome-wide screen for asthma in Puerto Ricans: evidence for association with 5q23 region
Published in Human genetics (01-06-2008)“…While the number of success stories for mapping genes associated with complex diseases using genome-wide association approaches is growing, there is still much…”
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Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association
Published in Circulation. Cardiovascular genetics (01-04-2016)“…The process of scientific discovery is rapidly evolving. The funding climate has influenced a favorable shift in scientific discovery toward the use of…”
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Variants in CXADR and F2RL1 are associated with blood pressure and obesity in African-Americans in regions identified through admixture mapping
Published in Journal of hypertension (01-10-2012)“…OBJECTIVE:Genetic variants in 296 genes in regions identified through admixture mapping of hypertension, BMI, and lipids were assessed for association with…”
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On the Probability of Matching DNA Fingerprints
Published in Science (American Association for the Advancement of Science) (07-02-1992)“…Forensic scientists commonly assume that DNA fingerprint patterns are infrequent in the general population and that genotypes are independent across loci. To…”
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Ancestry-Environment Interactions and Asthma Risk among Puerto Ricans
Published in American journal of respiratory and critical care medicine (15-11-2006)“…Puerto Ricans, an admixed population of African, European, and Native American ancestries, have the highest asthma prevalence, morbidity, and mortality rates…”
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Admixture mapping of quantitative trait loci for blood lipids in African-Americans
Published in Human molecular genetics (01-06-2009)“…Blood lipid levels, including low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and triglycerides (TG), are highly…”
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