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- Flannick, Jason, et al.
(författare)
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Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
- 2017
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Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 4
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Tidskriftsartikel (refereegranskat)abstract
- To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
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| 3. |
- Fuchsberger, Christian, et al.
(författare)
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The genetic architecture of type 2 diabetes
- 2016
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 536:7614, s. 41-47
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Tidskriftsartikel (refereegranskat)abstract
- The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
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- Kang, Min-Seok, et al.
(författare)
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Effect of annealing temperature on the barrier height of nano-particle embedded Ni-contacts to 4H-SiC
- 2011
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Ingår i: 2011 International Semiconductor Device Research Symposium (ISDRS). ; , s. 1-2
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Konferensbidrag (refereegranskat)abstract
- In order to realize stable SiC (Silicon carbide) devices, metal contacts to SiC with suitable physical and electrical characteristics are required. For example, Ohmic contacts with low specific contact resistances and Schottky contacts with controlled barrier height ( #x03A6;B) between SiC and metal are among the most important factors for determining the performance of SiC devices. To date, extensive studies have been carried out on the properties of barrier height of various metals on n- and p-type for SiC and many attempts have been made to modify the contact barrier height on SiC depending on the annealing temperature. To change effectively lower the barrier height of the metal/SiC structures, it was required to anneal the contact formed on highly doped 4H-SiC substrates ( #x003E;1018 cm #x2212;3) at high temperatures (900 #x223C;1000 #x00B0;C) [1]. Recently, the electrical contacts to SiC includes the implementation of nanostructures such as metal nano-partices (NPs) to modify the barrier height at metal-SiC interfaces and to alter fundamental SiC device properties by controlling the size of the metal NPs [2]. Previous results in the literature have been primarily focused on the effect of size reduction of NPs on the characteristics of diode structures with embedded NPs, which experimentally investigates the change in transport properties of metal/semiconductor interfaces in SiC depending on the size of NPs. However, so far the focus has been mainly on the scaling effect of NPs rather than on altering the electrical barrier of the NPs [3].
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