Retrotransposon expression profiling: Unveiling the hidden SINE transcriptome through Next-Generation Sequencing data analysis

Of the ~1.7 million SINE elements in the human genome, only a tiny number are estimated to be active in transcription by RNA polymerase (Pol) III. Tracing the individual loci from which SINE transcripts originate is complicated by their highly repetitive nature. By exploiting RNA-Seq datasets and unique SINE DNA sequences, we devised a bioinformatic pipeline allowing us to identify Pol III-dependent transcripts of individual SINE elements. When applied to ENCODE transcriptomes of seven human cell lines, this search strategy identified ~1300 Alu loci and ~1100 MIR loci corresponding to detectable transcripts, with ~120 and ~60 respectively Alu and MIR loci expressed in at least three cell lines. In vitro transcription of selected SINEs did not reflect their in vivo expression properties, and required the native 5’-flanking region in addition to internal promoter. We also identified a cluster of expressed AluYa5-derived transcription units, juxtaposed to snaR genes on chromosome 19, formed by a promoter-containing left monomer fused to an Alu-unrelated downstream moiety. Autonomous Pol III transcription was also revealed for SINEs nested within Pol II-transcribed genes raising the possibility of an underlying mechanism for Pol II gene regulation by SINE transcriptional units. Moreover the application of our bioinformatic pipeline to both RNA-seq data of cells subjected to an in vitro pro-oncogenic stimulus and of in vivo matched tumor and non-tumor samples allowed us to detect increased Alu RNA expression as well as the source loci of such deregulation. The ability to investigate SINE transcriptomes at single-locus resolution will facilitate both the identification of novel biologically relevant SINE RNAs and the assessment of SINE expression alteration under pathological conditions.

Physical and MAC layer techniques for next generation satellite communications

In this thesis, we consider four different scenarios of interest in modern satellite communications. For each scenario, we will propose the use of advanced solutions aimed at increasing the spectral efficiency of the communication links. First, we will investigate the optimization of the current standard for digital video broadcasting. We will increase the symbol rate of the signal and determine the optimal signal bandwidth. We will apply the time packing technique and propose a specifically design constellation. We will then compare some receiver architectures with different performance and complexity. The second scenario still addresses broadcast transmissions, but in a network composed of two satellites. We will compare three alternative transceiver strategies, namely, signals completely overlapped in frequency, frequency division multiplexing, and the Alamouti space-time block code, and, for each technique, we will derive theoretical results on the achievable rates. We will also evaluate the performance of said techniques in three different channel models. The third scenario deals with the application of multiuser detection in multibeam satellite systems. We will analyze a case in which the users are near the edge of the coverage area and, hence, they experience a high level of interference from adjacent cells. Also in this case, three different approaches will be compared. A classical approach in which each beam carries information for a user, a cooperative solution based on time division multiplexing, and the Alamouti scheme. The information theoretical analysis will be followed by the study of practical coded schemes. We will show that the theoretical bounds can be approached by a properly designed code or bit mapping. Finally, we will consider an Earth observation scenario, in which data is generated on the satellite and then transmitted to the ground. We will study two channel models, taking into account one or two transmit antennas, and apply techniques such as time and frequency packing, signal predistortion, multiuser detection and the Alamouti scheme.

Advanced receivers for next generation wireless communication systems

Despite extensive progress on the theoretical aspects of spectral efficient communication systems, hardware impairments, such as phase noise, are the key bottlenecks in next generation wireless communication systems. The presence of non-ideal oscillators at the transceiver introduces time varying phase noise and degrades the performance of the communication system. Significant research literature focuses on joint synchronization and decoding based on joint posterior distribution, which incorporate both the channel and code graph. These joint synchronization and decoding approaches operate on well designed sum-product algorithms, which involves calculating probabilistic messages iteratively passed between the channel statistical information and decoding information. Channel statistical information, generally entails a high computational complexity because its probabilistic model may involve continuous random variables. The detailed knowledge about the channel statistics for these algorithms make them an inadequate choice for real world applications due to power and computational limitations. In this thesis, novel phase estimation strategies are proposed, in which soft decision-directed iterative receivers for a separate A Posteriori Probability (APP)-based synchronization and decoding are proposed. These algorithms do not require any a priori statistical characterization of the phase noise process. The proposed approach relies on a Maximum A Posteriori (MAP)-based algorithm to perform phase noise estimation and does not depend on the considered modulation/coding scheme as it only exploits the APPs of the transmitted symbols. Different variants of APP-based phase estimation are considered. The proposed algorithm has significantly lower computational complexity with respect to joint synchronization/decoding approaches at the cost of slight performance degradation. With the aim to improve the robustness of the iterative receiver, we derive a new system model for an oversampled (more than one sample per symbol interval) phase noise channel. We extend the separate APP-based synchronization and decoding algorithm to a multi-sample receiver, which exploits the received information from the channel by exchanging the information in an iterative fashion to achieve robust convergence. Two algorithms based on sliding block-wise processing with soft ISI cancellation and detection are proposed, based on the use of reliable information from the channel decoder. Dually polarized systems provide a cost-and spatial-effective solution to increase spectral efficiency and are competitive candidates for next generation wireless communication systems. A novel soft decision-directed iterative receiver, for separate APP-based synchronization and decoding, is proposed. This algorithm relies on an Minimum Mean Square Error (MMSE)-based cancellation of the cross polarization interference (XPI) followed by phase estimation on the polarization of interest. This iterative receiver structure is motivated from Master/Slave Phase Estimation (M/S-PE), where M-PE corresponds to the polarization of interest. The operational principle of a M/S-PE block is to improve the phase tracking performance of both polarization branches: more precisely, the M-PE block tracks the co-polar phase and the S-PE block reduces the residual phase error on the cross-polar branch. Two variants of MMSE-based phase estimation are considered; BW and PLP.