Layer 2 Path Selection Protocol for Wireless Mesh Networks with Smart Antennas

In this thesis the possibilities of smart antenna systems in wireless mesh networks are examined. With respect to the individual smart antenna tradeoffs, a routing protocol (Modified HWMP, MHWMP) for IEEE 802.11s mesh networks is presented, that exploits the full range of benefits provided by smart antennas: MHWMP actively switches between the PHY-layer transmission/reception modes (multiplexing, beamforming and diversity) according to the wireless channel conditions. Spatial multiplexing and beamforming are used for unicast data transmissions, while antenna diversity is employed for efficient broadcasts. To adapt to the directional channel environment and to take full benefit of the PHY capabilities, a respective MAC scheme is employed. The presented protocol is tested in extensive simulation and the results are examined.:1 Introduction 2 Wireless Mesh Networks 3 IEEE 802.11s 4 Smart Antenna Concepts 5 State of the Art: Wireless Mesh Networks with Smart Antennas 6 New Concepts 7 System Model 8 Results and Discussion 9 Conclusion and Future Wor

Cost effective assay choice for rare disease study designs

High throughput assays tend to be expensive per subject. Often studies are limited not so much by the number of subjects available as by assay costs, making assay choice a critical issue. We have developed a framework for assay choice that maximises the number of true disease causing mechanisms ‘seen’, given limited resources. Although straightforward, some of the ramifications of our methodology run counter to received wisdom on study design. We illustrate our methodology with examples, and have built a website allowing calculation of quantities of interest to those designing rare disease studies.published_or_final_versio

Sacral agenesis: a pilot whole exome sequencing and copy number study

Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and environmental factors. A well-known risk factor is maternal type 1 diabetes. Method: Whole exome sequencing and copy number variation (CNV) analyses were conducted on 4 Caucasian trios to identify de novo and inherited rare mutations. Results: In this pilot study, exome sequencing and copy number variation (CNV) analyses implicate a number of candidate genes, including SPTBN5, MORN1, ZNF330, CLTCL1 and PDZD2. De novo mutations were found in SPTBN5, MORN1 and ZNF330 and inherited predicted damaging mutations in PDZD2 (homozygous) and CLTCL1 (compound heterozygous). Importantly, predicted damaging mutations in PTEN (heterozygous), in its direct regulator GLTSCR2 (compound heterozygous) and in VANGL1 (heterozygous) were identified. These genes had previously been linked with the CRS phenotype. Two CNV deletions, one de novo (chr3q13.13) and one homozygous (chr8p23.2), were detected in one of our CRS patients. These deletions overlapped with CNVs previously reported in patients with similar phenotype. Conclusion: Despite the genetic diversity and the complexity of the phenotype, this pilot study identified genetic features common across CRS patients

A Testbed Analysis of the Effects of IEEE 802.11s Power Save on Mesh Link Performance

Part 1: Radio CommunicationsInternational audienceRecently, the IEEE published the 802.11s standard amendment for wireless mesh networks using IEEE 802.11 hardware. Since most of the new techniques may be implemented in software, this allows to bring the benefits of mesh networking to a broad market of about one billion devices. The standard amendment describes new power save schemes which allow efficient energy saving for all mesh nodes. On the downside, the power save schemes will also degrade the network performance in terms of delay and throughput. In this paper we present a testbed analysis of the effects of 802.11s power save on mesh link performance. We analyze the effects on round-trip time and throughput in detail for different configurations and network parameters

A Testbed Evaluation of the Scalability of IEEE 802.11s Light Sleep Mode

Part 10: Poster PapersInternational audienceWireless mesh networks have not yet made their breakthrough in consumer electronics, although they are well suited for use in home or on-the-go environments. Especially IEEE 802.11s is ideal for multimedia sharing on handheld devices as it uses regular Wi-Fi hardware, but provides connectivity without requiring an access point. To maintain proper battery runtime on mobile devices 802.11s introduces new power save schemes. Despite the increased complexity due to the meshed connectivity, these schemes allow efficient energy saving for the mesh nodes. In this paper we present a testbed implementation of the IEEE 802.11s power save schemes on off-the-shelf hardware and assess their effects on current consumption for the idle network case in detail

De novo mutations associated with sporadic cases of Caudal regresion syndrome

Poster PresentationAim: The identification of de novo disease causing mutations in three Caucasian patients with sporadic Caudal Regression Syndrome (CRS). CRS is a rare and diverse congenital disorder which is characterised by different degrees of agenesis of the caudal spine. Known genetic mutations are only able to explain a fraction of cases and are not accounting for sporadic occurrences or the diversity of the disorder. Methods: Exome sequencing assay was conducted of the three sporadic cases and their biological parents. We targeted rare genetic variants as the underlying cause of CRS as well as de novo mutations. Further we investigated de novo indels, copy number variations (CNV) and compound heterozygosity. Identified mutations were ranked and filtered based on genomic, genetic and statistical features. Results: Sanger sequencing confirmed two different de novo mutations in two cases (detailed results will be presented). In addition, our analysis revealed several potentially causal compound heterozygous mutations which are also under investigation. Conclusion: CRS may be caused by de novo or compound heterozy mutations thus, i) the diversity of the disorder is mirrored in the underlying genetic architecture and its mutations; ii) ranking of compound heterozygous mutations enables identification of candidate genes

Additional file 1: of Sacral agenesis: a pilot whole exome sequencing and copy number study

Supplementary Methods and Material. (DOCX 51 kb

Additional file 2: of Sacral agenesis: a pilot whole exome sequencing and copy number study

All called variants after QC and MAF. (XLSX 1329 kb