Safety in Multi-Assembly via Paths Appearing in All Path Covers of a DAG.

A multi-assembly problem asks to reconstruct multiple genomic sequences from mixed reads sequenced from all of them. Standard formulations of such problems model a solution as a path cover in a directed acyclic graph, namely a set of paths that together cover all vertices of the graph. Since multi-assembly problems admit multiple solutions in practice, we consider an approach commonly used in standard genome assembly: output only partial solutions (contigs, or safe paths), that appear in all path cover solutions. We study constrained path covers, a restriction on the path cover solution that incorporate practical constraints arising in multi-assembly problems. We give efficient algorithms finding all maximal safe paths for constrained path covers. We compute the safe paths of splicing graphs constructed from transcript annotations of different species. Our algorithms run in less than 15 seconds per species and report RNA contigs that are over 99% precise and are up to 8 times longer than unitigs. Moreover, RNA contigs cover over 70% of the transcripts and their coding sequences in most cases. With their increased length to unitigs, high precision, and fast construction time, maximal safe paths can provide a better base set of sequences for transcript assembly programs.

Measuring Interoception: The CARdiac Elevation Detection Task.

Interoception has increasingly been the focus of psychiatric research, due to its hypothesized role in mental health. Existing interoceptive tasks either suffer from important methodological limitations, impacting their validity, or are burdensome and require specialized equipment, which limits their usage in vulnerable populations. We report on the development of the CARdiac Elevation Detection (CARED) task. Participants' heart rate is recorded by a wearable device connected to a mobile application. Notifications are sent to participants' mobile throughout the day over a period of 4 weeks. Participants are asked to state whether their heart rate is higher than usual, rate their confidence and describe the activity they were involved in when the notification occurred. Data (N = 30) revealed that 1/3 of the sample was classified as interoceptive and that participants presented overall good insight into their interoceptive abilities. Given its ease of administration and accessibility, the CARED task has the potential to be a significant asset for psychiatric and developmental research.

SDNN24 Estimation from Semi-Continuous HR Measures.

The standard deviation of the interval between QRS complexes recorded over 24 h (SDNN24) is an important metric of cardiovascular health. Wrist-worn fitness wearable devices record heart beats 24/7 having a complete overview of users' heart status. Due to motion artefacts affecting QRS complexes recording, and the different nature of the heart rate sensor used on wearable devices compared to ECG, traditionally used to compute SDNN24, the estimation of this important Heart Rate Variability (HRV) metric has never been performed from wearable data. We propose an innovative approach to estimate SDNN24 only exploiting the Heart Rate (HR) that is normally available on wearable fitness trackers and less affected by data noise. The standard deviation of inter-beats intervals (SDNN24) and the standard deviation of the Average inter-beats intervals (ANN) derived from the HR (obtained in a time window with defined duration, i.e., 1, 5, 10, 30 and 60 min), i.e., ANN=60HR (SDANNHR24), were calculated over 24 h. Power spectrum analysis using the Lomb-Scargle Peridogram was performed to assess frequency domain HRV parameters (Ultra Low Frequency, Very Low Frequency, Low Frequency, and High Frequency). Due to the fact that SDNN24 reflects the total power of the power of the HRV spectrum, the values estimated from HR measures (SDANNHR24) underestimate the real values because of the high frequencies that are missing. Subjects with low and high cardiovascular risk show different power spectra. In particular, differences are detected in Ultra Low and Very Low frequencies, while similar results are shown in Low and High frequencies. For this reason, we found that HR measures contain enough information to discriminate cardiovascular risk. Semi-continuous measures of HR throughout 24 h, as measured by most wrist-worn fitness wearable devices, should be sufficient to estimate SDNN24 and cardiovascular risk.

Analysis of the Impact of Interpolation Methods of Missing RR-intervals Caused by Motion Artifacts on HRV Features Estimations.

Wearable physiological monitors have become increasingly popular, often worn during people's daily life, collecting data 24 hours a day, 7 days a week. In the last decade, these devices have attracted the attention of the scientific community as they allow us to automatically extract information about user physiology (e.g., heart rate, sleep quality and physical activity) enabling inference on their health. However, the biggest issue about the data recorded by wearable devices is the missing values due to motion and mechanical artifacts induced by external stimuli during data acquisition. This missing data could negatively affect the assessment of heart rate (HR) response and estimation of heart rate variability (HRV), that could in turn provide misleading insights concerning the health status of the individual. In this study, we focus on healthy subjects with normal heart activity and investigate the effects of missing variation of the timing between beats (RR-intervals) caused by motion artifacts on HRV features estimation by randomly introducing missing values within a five min time windows of RR-intervals obtained from the nsr2db PhysioNet dataset by using Gilbert burst method. We then evaluate several strategies for estimating HRV in the presence of missing values by interpolating periods of missing values, covering the range of techniques often deployed in the literature, via linear, quadratic, cubic, and cubic spline functions. We thereby compare the HRV features obtained by handling missing data in RR-interval time series against HRV features obtained from the same data without missing values. Finally, we assess the difference between the use of interpolation methods on time (i.e., the timestamp when the heartbeats happen) and on duration (i.e., the duration of the heartbeats), in order to identify the best methodology to handle the missing RR-intervals. The main novel finding of this study is that the interpolation of missing data on time produces more reliable HRV estimations when compared to interpolation on duration. Hence, we can conclude that interpolation on duration modifies the power spectrum of the RR signal, negatively affecting the estimation of the HRV features as the amount of missing values increases. We can conclude that interpolation in time is the optimal method among those considered for handling data with large amounts of missing values, such as data from wearable sensors.

Hardness of Covering Alignment: Phase Transition in Post-Sequence Genomics.

Covering alignment problems arise from recent developments in genomics; so called pan-genome graphs are replacing reference genomes, and advances in haplotyping enable full content of diploid genomes to be used as basis of sequence analysis. In this paper, we show that the computational complexity will change for natural extensions of alignments to pan-genome representations and to diploid genomes. More broadly, our approach can also be seen as a minimal extension of sequence alignment to labelled directed acyclic graphs (labeled DAGs). Namely, we show that finding a covering alignment of two labeled DAGs is NP-hard even on binary alphabets. A covering alignment asks for two paths R1 (red) and G1 (green) in DAG D1 and two paths R2 (red) and G2 (green) in DAG D2 that cover the nodes of the graphs and maximize the sum of the global alignment scores: as(sp(R1),sp(R2))+as(sp(G1),sp(G2)), where sp(P) is the concatenation of labels on the path P. Pair-wise alignment of haplotype sequences forming a diploid chromosome can be converted to a two-path coverable labelled DAG, and then the covering alignment models the similarity of two diploids over arbitrary recombinations. We also give a reduction to the other direction, to show that such a recombination-oblivious diploid alignment is NP-hard on alphabets of size 3.