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- Clark, DW, et al.
(författare)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Tidskriftsartikel (refereegranskat)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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| 2. |
- Kakkar, Aditya, 1989-
(författare)
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Frequency Noise in Coherent Optical Systems: Impact and Mitigation Methods
- 2017
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The increase in capacity demand along with the advancement in digital signal processing (DSP) have recently revived the interest in coherent optical communications and led to its commercialization. However, design and development of robust DSP algorithms for example for carrier phase recovery (CPR) becomes complex as we opt for high order modulation formats such as 16QAM and beyond. Further, electrical-domain dispersion compensation (EDC), while providing many advantages, makes the system more susceptible to laser frequency noise (FN). For instance, in coherent optical links with post-reception EDC, while the transmitter frequency noise causes only phase impairment, the local oscillator (LO) FN in these systems results in a noise enhancement in both amplitude and phase. This noise is commonly known as equalization enhanced phase noise (EEPN). It results in asymmetric requirements for transmitter laser and LO laser. Further, the system design in the presence of lasers with non-white frequency noise becomes increasingly challenging for increased capacity-distance product.The main contributions of this thesis are, firstly, an experimentally validated theory of coherent optical links with lasers having general non-white frequency noise spectrum and corresponding system/laser design criteria and mitigation technique. Secondly, low complexity and high phase noise tolerant CPR for high order modulation formats.The general theory propounded in this thesis elucidates the origin of the laser frequency noise induced noise enhancement in coherent optical links with different DSP configurations. The thesis establishes the existence of multiple frequency noise regimes and shows that each regime results in different set of impairments. The influence of the impairments due to some regimes can ideally be reduced by optimizing the corresponding mitigation algorithms, while other regimes cause irretrievable impairments. Experimentally validated theoretical boundaries of these regimes and corresponding criteria applicable to system/laser design are provided. Further, an EEPN mitigation method and its two possible implementations are proposed and discussed.The thesis also demonstrates an intrinsic limitation of the conventional Blind Phase Search (BPS) algorithm due to angular quantization and provides methods to overcome it. Finally, this thesis proposes and demonstrates single stage and multi-stage carrier phase recovery algorithms for compensation of phase impairments due to the two lasers for higher order circular and square modulations. The proposed methods outperform the state of art algorithms both in performance and in complexity.
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