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- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 2. |
- Bowes, Rachel E., et al.
(författare)
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Less means more : nutrient stress leads to higher delta N-15 ratios in fish
- 2014
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Ingår i: Freshwater Biology. - : Wiley-Blackwell. - 0046-5070 .- 1365-2427. ; 59:9, s. 1926-1931
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Tidskriftsartikel (refereegranskat)abstract
- 1. Isotopic ratios of nitrogen are often used in food-web studies to determine trophic position (including food chain length) and food sources, with greater ratios of 15N/14N (d15N) usually considered indicative of higher trophic position. However, fasting and starving animals may also show a progressive increase in d15N over time as they catabolise their own tissues.2. To determine the importance of starvation, we conducted a 4-month laboratory experiment testing effects of starvation on body condition and isotope ratios in the muscle tissue of freshwater guppies (Poecilia reticulata). We also compared laboratory results and conclusions with analyses of body condition and isotope ratios in various small species of fish collected in four seasons from the Kansas River in north-eastern Kansas, U.S.A.3. Fish starved in our laboratory experiment had significantly higher 15N values and poorer body condition than those fed more regularly. The diverse group of fish species collected in summer (July) from the Kansas River had higher weight-to-length ratios and lower 15N values than those retrieved in other seasons. Overall body condition resulting from reduced food consumption explained 44 and 53% of the variability in 15N for field and laboratory fish, respectively.4. These results are applicable to a wide variety of food-web research but are especially pertinent to studies of organisms that undergo large changes in life history, dormancy, extended fasts or periods of significant nutritional allocation to young.
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