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| 2. |
- Bruder, Carl E G, et al.
(författare)
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Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
- 2008
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 82:3, s. 763-71
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Tidskriftsartikel (refereegranskat)abstract
- The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
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| 3. |
- Hillier, Ladeana W, et al.
(författare)
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Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
- 2004
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
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Tidskriftsartikel (refereegranskat)abstract
- We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
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| 4. |
- Källhammer, Jan-Erik, et al.
(författare)
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Fulfilling the pedestrian protection directive using a long-wavelength infrared camera designed to meet both performance and cost targets
- 2006
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Ingår i: Photonics in the Automobile II. - : SPIE. ; , s. 19809-19809
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Konferensbidrag (refereegranskat)abstract
- Pedestrian fatalities are around 15% of the traffic fatalities in Europe. A proposed EU regulation requires the automotive industry to develop technologies that will substantially decrease the risk for Vulnerable Road Users when hit by a vehicle. Automatic Brake Assist systems, activated by a suitable sensor, will reduce the speed of the vehicle before the impact, independent of any driver interaction. Long Wavelength Infrared technology is an ideal candidate for such sensors, but requires a significant cost reduction. The target necessary for automotive serial applications are well below the cost of systems available today. Uncooled bolometer arrays are the most mature technology for Long Wave Infrared with low-cost potential. Analyses show that sensor size and production yield along with vacuum packaging and the optical components are the main cost drivers. A project has been started to design a new Long Wave Infrared system with a ten times cost reduction potential, optimized for the pedestrian protection requirement. It will take advantage of the progress in Micro Electro-Mechanical Systems and Long Wave Infrared optics to keep the cost down. Deployable and pre-impact braking systems can become effective alternatives to passive impact protection systems solutions fulfilling the EU pedestrian protection regulation. Low-cost Long Wave Infrared sensors will be an important enabler to make such systems cost competitive, allowing high market penetration.
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| 5. |
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| 6. |
- Andersson, Carin, et al.
(författare)
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Bandsawing. Part I: cutting force model including effects of positional errors, tool dynamics and wear
- 2000
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Ingår i: International Journal of Machine Tools & Manufacture. - 0890-6955. ; 41:2, s. 227-236
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Tidskriftsartikel (refereegranskat)abstract
- This article presents a mechanical cutting force model for bandsawing. The model describes the variation in cutting force between individual teeth and relates it to initial positional errors, tool dynamics and edge wear. Bandsawing is a multi-tooth cutting process, and the terminology of the cutting action is discussed and compared with other cutting processes. It will also be shown that the setting pattern and the preset feed govern the cutting data.
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| 7. |
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| 8. |
- Andersson, Jan O, et al.
(författare)
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A century of typhus, lice and Rickettsia
- 2000
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Ingår i: Research in Microbiology. - : EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER. - 0923-2508 .- 1769-7123. ; 151:2, s. 143-150
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Tidskriftsartikel (refereegranskat)abstract
- At the beginning of the 20th century, it was discovered at the Pasteur Institute in Tunis that epidemic typhus is transmitted by the human body louse. The complete genome sequence of its causative agent, Rickettsia prowazekii, was determined at Uppsala University in Sweden at the end of the century. In this mini-review, we discuss insights gained from the genome sequence of this fascinating and deadly organism.
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| 9. |
- Andersson, Jan O, et al.
(författare)
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Pseudogenes, junk DNA, and the dynamics of Rickettsia genomes
- 2001
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Ingår i: Molecular biology and evolution. - 0737-4038 .- 1537-1719. ; 18:5, s. 829-839
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Tidskriftsartikel (refereegranskat)abstract
- Studies of neutrally evolving sequences suggest that differences in eukaryotic genome sizes result from different rates of DNA loss. However, very few pseudogenes have been identified in microbial species, and the processes whereby genes and genomes deteriorate in bacteria remain largely unresolved. The typhus-causing agent, Rickettsia prowazekii, is exceptional in that as much as 24% of its 1.1-Mb genome consists of noncoding DNA and pseudogenes. To test the hypothesis that the noncoding DNA in the R. prowazekii genome represents degraded remnants of ancestral genes, we systematically examined all of the identified pseudogenes and their flanking sequences in three additional Rickettsia species. Consistent with the hypothesis, we observe sequence similarities between genes and pseudogenes in one species and intergenic DNA in another species. We show that the frequencies and average sizes of deletions are larger than insertions in neutrally evolving pseudogene sequences. Our results suggest that inactivated genetic material in the Rickettsia genomes deteriorates spontaneously due to a mutation bias for deletions and that the noncoding sequences represent DNA in the final stages of this degenerative process.
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| 10. |
- Andersson, Kennet, 1979-, et al.
(författare)
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Assessment of cerebrospinal fluid outflow conductance using an adaptive observer-experimental and clinical evaluation
- 2007
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Ingår i: Physiological Measurement. - : IOP Publishing. - 0967-3334 .- 1361-6579. ; 28:11, s. 1355-1368
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Tidskriftsartikel (refereegranskat)abstract
- Idiopathic normal pressure hydrocephalus (INPH) patients have a disturbance in the dynamics of the cerebrospinal fluid (CSF) system. The outflow conductance, C, of the CSF system has been suggested to be prognostic for positive outcome after treatment with a CSF shunt. All current methods for estimation of C have drawbacks; these include lack of information on the accuracy and relatively long investigation times. Thus, there is a need for improved methods. To accomplish this, the theoretical framework for a new adaptive observer (OBS) was developed which provides real-time estimation of C. The aim of this study was to evaluate the OBS method and to compare it with the constant pressure infusion (CPI) method. The OBS method was applied to data from infusion investigations performed with the CPI method. These consisted of repeated measurements on an experimental set-up and 30 patients with suspected INPH. There was no significant difference in C between the CPI and the OBS method for the experimental set-up. For the patients there was a significant difference, −0.84 ± 1.25 µl (s kPa)−1, mean ± SD (paired sample t-test, p < 0.05). However, such a difference is within clinically acceptable limits. This encourages further development of this new real-time approach for estimation of the outflow conductance.
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