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Article
Open AccessExpanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of...
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Article
Open AccessInvestigation of a family affected by early-onset osteoarthritis – proposal of a clinical pathway and bioinformatics pipeline for the investigation of cases of familial OA
Familial cases of early-onset osteoarthritis (OA) are rare although the exact prevalence is unknown. Early recognition of underlying OA-associated disorders is vital for targeted treatment, when available, and...
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Article
Open AccessBreaking TrustZone memory isolation and secure boot through malicious hardware on a modern FPGA-SoC
FPGA-SoCs are heterogeneous embedded computing platforms consisting of reconfigurable hardware and high-performance processing units. This combination offers flexibility and good performance for the design of ...
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Article
Open AccessClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Whole genome sequencing (WGS) has the potential to outperform clinical microarrays for the detection of structural variants (SV) including copy number variants (CNVs), but has been challenged by high false pos...
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Article
Open AccessInitiating an undiagnosed diseases program in the Western Australian public health system
New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as ...
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Chapter
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on ...
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Chapter and Conference Paper
Automated Detection of Instruction Cache Leaks in Modular Exponentiation Software
The shared instruction cache of modern processors is an established side-channel that allows adversaries to observe the execution flow of other applications. This has been shown to be a threat to cryptographic...
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Chapter and Conference Paper
How to Break Secure Boot on FPGA SoCs Through Malicious Hardware
Embedded IoT devices are often built upon large system on chip computing platforms running a significant stack of software. For certain computation-intensive operations such as signal processing or encryption ...
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Chapter and Conference Paper
PerfWeb: How to Violate Web Privacy with Hardware Performance Events
The browser history reveals highly sensitive information about users, such as financial status, health conditions, or political views. Private browsing modes and anonymity networks are consequently important t...
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Article
Open AccessMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function
Ciliopathies are a group of genetic disorders caused by defective assembly or dysfunction of the primary cilium, a microtubule-based cellular organelle that plays a key role in developmental signalling. Ciliop...
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Chapter and Conference Paper
Towards Efficient Evaluation of a Time-Driven Cache Attack on Modern Processors
Software implementations of block ciphers are widely used to perform critical operations such as disk encryption or TLS traffic protection. To speed up cipher execution, many implementations rely on pre-comput...
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Article
Open AccessCapturing domain knowledge from multiple sources: the rare bone disorders use case
Lately, ontologies have become a fundamental building block in the process of formalising and storing complex biomedical information. The community-driven ontology curation process, however, ignores the possib...
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Article
Open AccessThe IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V
The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5’ untranslated region (UTR) of IFITM5, a gene encoding a transmembr...
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Article
Open AccessSemantic interestingness measures for discovering association rules in the skeletal dysplasia domain
Lately, ontologies have become a fundamental building block in the process of formalising and storing complex biomedical information. With the currently existing wealth of formalised knowledge, the ability to ...
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Article
Open AccessSupervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods
Over the course of the last few years there has been a significant amount of research performed on ontology-based formalization of phenotype descriptions. In order to fully capture the intrinsic value and know...
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Article
Open AccessThe Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative join...
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Chapter and Conference Paper
Experiences with Modeling Composite Phenotypes in the SKELETOME Project
Semantic annotation of patient data in the skeletal dysplasia domain (e.g., clinical summaries) is a challenging process due to the structural and lexical differences existing between the terms used to describ...
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Chapter and Conference Paper
Semantic Similarity-Driven Decision Support in the Skeletal Dysplasia Domain
Biomedical ontologies have become a mainstream topic in medical research. They represent important sources of evolved knowledge that may be automatically integrated in decision support methods. Grounding clini...
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Article
Open AccessTRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant b...
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Chapter and Conference Paper
Using Semantic Web Technologies to Build a Community-Driven Knowledge Curation Platform for the Skeletal Dysplasia Domain
In this paper we report on our on-going efforts in building SKELETOME – a community-driven knowledge curation platform for the skeletal dysplasia domain. SKELETOME introduces an ontology-driven knowledge engin...
