Anomaly Detection from Low-dimensional Latent Manifolds with Home Environmental Sensors

Human Activity Recognition poses a significant challenge within Active and Assisted Living (AAL) systems, relying extensively on ubiquitous environmental sensor-based acquisition devices to detect user situations in their daily living. Environmental measurement systems deployed indoors yield multiparametric data in heterogeneous formats, which presents a challenge for developing Machine Learning-based AAL models. We hypothesized that anomaly detection algorithms could be effectively employed to create data-driven models for monitoring home environments and that the complex multiparametric indoor measurements can often be represented by a relatively small number of latent variables generated through Manifold Learning (MnL) techniques. We examined both linear (Principal Component Analysis) and non-linear (AutoEncoders) techniques for generating these latent spaces and the utility of core domain detection techniques for identifying anomalies within the resulting low-dimensional manifolds. We benchmarked this approach using three publicly available datasets (hh105, Aruba, and Tulum) and one proprietary dataset (Elioth) for home environmental monitoring. Our results demonstrated the following key findings: (a) Nonlinear manifold estimation techniques offer significant advantages in retrieving latent variables when compared to linear techniques; (b) The quality of the reconstruction of the original multidimensional recordings serves as an acceptable indicator of the quality of the generated latent spaces; (c) Domain detection identifies regions of normality consistent with typical individual activities in these spaces; And (d) the system effectively detects deviations from typical activity patterns and labels anomalies. This study lays the groundwork for further exploration of enhanced methods for extracting information from MnL data models and their application within the AAL and possibly other sectors

Electrical cardiac monitoring in the head for helmet applications

In order to improve the emergency response of medical services to motorcycle accidents, the EU-funded i-VITAL project has developed an integrated system for providing real-time vital sign readings to emergency teams so that an adequate emergency response can be prepared in advance. The use of helmets is compulsory and they already include other enhanced functionalities (such as Bluetooth hands-free headset, or even GPS support). However, ECG has been performed almost solely through skin contact to both sides of the body, whereas direct electrical heart signal monitoring (ECG-like) in helmets remains an unsolved problem. This paper presents the work and results on ECG-like measurements in the head area using EPIC sensors. This work was part of the i-VITAL project research, with the goal of constructing a novel vital sign monitoring system for seamless integration into helmets

Whole-genome sequencing of patients with rare diseases in a national health system

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare