Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to ~192,000 individuals, and used ~155,063 samples for independent replication. We identified 31 novel blood pressure or hypertension associated genetic regions in the general population, including three rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5mmHg/allele) than common variants. Multiple rare, nonsense and missense variant associations were found in A2ML1 and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention

Rare and low-frequency coding variants alter human adult height

Height is a highly heritable, classic polygenic trait with ~700 common associated variants identified so far through genome - wide association studies . Here , we report 83 height - associated coding variants with lower minor allele frequenc ies ( range of 0.1 - 4.8% ) and effects of up to 2 16 cm /allele ( e.g. in IHH , STC2 , AR and CRISPLD2 ) , >10 times the average effect of common variants . In functional follow - up studies, rare height - increasing alleles of STC2 (+1 - 2 cm/allele) compromise d proteolytic inhibition of PAPP - A and increased cleavage of IGFBP - 4 in vitro , resulting in higher bioavailability of insulin - like growth factors . The se 83 height - associated variants overlap genes mutated in monogenic growth disorders and highlight new biological candidates ( e.g. ADAMTS3, IL11RA, NOX4 ) and pathways ( e.g . proteoglycan/ glycosaminoglycan synthesis ) involved in growth . Our results demonstrate that sufficiently large sample sizes can uncover rare and low - frequency variants of moderate to large effect associated with polygenic human phenotypes , and that these variants implicate relevant genes and pathways

Software-based countermeasures to 2D facial spoofing attacks

Abstract Because of its natural and non-intrusive interaction, identity verification and recognition using facial information is among the most active areas in computer vision research. Unfortunately, it has been shown that conventional 2D face recognition techniques are vulnerable to spoofing attacks, where a person tries to masquerade as another one by falsifying biometric data and thereby gaining an illegitimate advantage. This thesis explores different directions for software-based face anti-spoofing. The proposed approaches are divided into two categories: first, low-level feature descriptors are applied for describing the static and dynamic characteristic differences between genuine faces and fake ones in general, and second, complementary attack-specific countermeasures are investigated in order to overcome the limitations of generic spoof detection schemes. The static face representation is based on a set of well-known feature descriptors, including local binary patterns, Gabor wavelet features and histogram of oriented gradients. The key idea is to capture the differences in quality, light reflection and shading by analysing the texture and gradient structure of the input face images. The approach is then extended to the spatiotemporal domain when both facial appearance and dynamics are exploited for spoof detection using local binary patterns from three orthogonal planes. It is reasonable to assume that no generic spoof detection scheme is able to detect all known, let alone unseen, attacks scenarios. In order to find out well-generalizing countermeasures, the problem of anti-spoofing is broken into two attack-specific sub-problems based on whether the spoofing medium can be detected in the provided view or not. The spoofing medium detection is performed by describing the discontinuities in the gradient structures around the detected face. If the display medium is concealed outside the view, a combination of face and background motion correlation measurement and texture analysis is applied. Furthermore, an open-source anti-spoofing fusion framework is introduced and its system-level performance is investigated more closely in order to gain insight on how to combine different anti-spoofing modules. The proposed spoof detection schemes are evaluated on the latest benchmark datasets. The main findings of the experiments are discussed in the thesis.Tiivistelmä Kasvokuvaan perustuvan henkilöllisyyden tunnistamisen etuja ovat luonnollinen vuorovaikutus ja etätunnistus, minkä takia aihe on ollut erittäin aktiivinen tutkimusalue konenäön tutkimuksessa. Valitettavasti tavanomaiset kasvontunnistustekniikat ovat osoittautuneet haavoittuvaisiksi hyökkäyksille, joissa kameralle esitetään jäljennös kohdehenkilön kasvoista positiivisen tunnistuksen toivossa. Tässä väitöskirjassa tutkitaan erilaisia ohjelmistopohjaisia ratkaisuja keinotekoisten kasvojen ilmaisuun petkuttamisen estämiseksi. Työn ensimmäisessä osassa käytetään erilaisia matalan tason piirteitä kuvaamaan aitojen ja keinotekoisten kasvojen luontaisia staattisia ja dynaamisia eroavaisuuksia. Työn toisessa osassa esitetään toisiaan täydentäviä hyökkäystyyppikohtaisia vastakeinoja, jotta yleispätevien menetelmien puutteet voitaisiin ratkaista ongelmaa rajaamalla. Kasvojen staattisten ominaisuuksien esitys perustuu yleisesti tunnettuihin matalan tason piirteisiin, kuten paikallisiin binäärikuvioihin, Gabor-tekstuureihin ja suunnattujen gradienttien histogrammeihin. Pääajatuksena on kuvata aitojen ja keinotekoisten kasvojen laadun, heijastumisen ja varjostumisen eroavaisuuksia tekstuuria ja gradienttirakenteita analysoimalla. Lähestymistapaa laajennetaan myös tila-aika-avaruuteen, jolloin hyödynnetään samanaikaisesti sekä kasvojen ulkonäköä ja dynamiikkaa irroittamalla paikallisia binäärikuvioita tila-aika-avaruuden kolmelta ortogonaaliselta tasolta. Voidaan olettaa, ettei ole olemassa yksittäistä yleispätevää vastakeinoa, joka kykenee ilmaisemaan jokaisen tunnetun hyökkäystyypin, saati tuntemattoman. Näin ollen työssä keskitytään tarkemmin kahteen hyökkäystilanteeseen. Ensimmäisessä tapauksessa huijausapuvälineen reunoja ilmaistaan analysoimalla gradienttirakenteiden epäjatkuvuuksia havaittujen kasvojen ympäristössä. Jos apuvälineen reunat on piilotettu kameran näkymän ulkopuolelle, petkuttamisen ilmaisu toteutetaan yhdistämällä kasvojen ja taustan liikkeen korrelaation mittausta ja kasvojen tekstuurianalyysiä. Lisäksi työssä esitellään vastakeinojen yhdistämiseen avoimen lähdekoodin ohjelmisto, jonka avulla tutkitaan lähemmin menetelmien fuusion vaikutuksia. Tutkimuksessa esitetyt menetelmät on kokeellisesti vahvistettu alan viimeisimmillä julkisesti saatavilla olevilla tietokannoilla. Tässä väitöskirjassa käydään läpi kokeiden päähavainnot

On the generalization of color texture-based face anti-spoofing

Abstract Despite the significant attention given to the problem of face spoofing, we still lack generalized presentation attack detection (PAD) methods performing robustly in practical face recognition systems. The existing face anti-spoofing techniques have indeed achieved impressive results when trained and evaluated on the same database (i.e. intra-test protocols). Cross-database experiments have, however, revealed that the performance of the state-of-the-art methods drops drastically as they fail to cope with new attacks scenarios and other operating conditions that have not been seen during training and development phases. So far, even the popular convolutional neural networks (CNN) have failed to derive well-generalizing features for face anti-spoofing. In this work, we explore the effect of different factors, such as acquisition conditions and presentation attack instrument (PAI) variation, on the generalization of color texture-based face anti-spoofing. Our extensive cross-database evaluation of seven color texture-based methods demonstrates that most of the methods are unable to generalize to unseen spoofing attack scenarios. More importantly, the experiments show that some facial color texture representations are more robust to particular PAIs than others. From this observation, we propose a face PAD solution of attack-specific countermeasures based solely on color texture analysis and investigate how well it generalizes under display and print attacks in different conditions. The evaluation of the method combining attack-specific detectors on three benchmark face anti-spoofing databases showed remarkable generalization ability against display attacks while print attacks require still further attention

Contact lens detection in iris images

Abstract Iris texture provides the means for extremely accurate uni-modal person identification. However, the accuracy of iris-based biometric systems is sensitive to the presence of contact lenses in acquired sample images. This is especially true in the case of textured (cosmetic) contact lenses that can be effectively used to obscure the original iris texture of a subject and consequently to perform presentation attacks. Since also transparent contact lenses can degrade matching rates, automatic detection and classification of different contact lens types is needed in order to improve the robustness of iris-based biometric systems. This chapter introduces the problem of contact lens detection with particular focus on cosmetic contact lenses. The state of the art is analysed thoroughly and a case study on generalised textured contact lens detection is provided. The potential future research directions are also discussed

Self-supervised 2D face presentation attack detection via temporal sequence sampling

Abstract Conventional 2D face biometric systems are vulnerable to presentation attacks performed with different face artefacts, e.g., printouts, video-replays and wearable 3D masks. The research focus in face presentation attack detection (PAD) has been recently shifting towards end-to-end learning of deep representations directly from annotated data rather than designing hand-crafted (low-level) features. However, even the state-of-the-art deep learning based face PAD models have shown unsatisfying generalization performance when facing unknown attacks or acquisition conditions due to lack of representative training and tuning data available in the existing public benchmarks. To alleviate this issue, we propose a video pre-processing technique called Temporal Sequence Sampling (TSS) for 2D face PAD by removing the estimated inter-frame 2D affine motion in the view and encoding the appearance and dynamics of the resulting smoothed video sequence into a single RGB image. Furthermore, we leverage the features of a Convolutional Neural Network (CNN) by introducing a self-supervised representation learning scheme, where the labels are automatically generated by the TSS method as the stabilized frames accumulated over video clips of different temporal lengths provide the supervision. The learnt feature representations are then fine-tuned for the downstream task using labelled face PAD data. Our extensive experiments on four public benchmarks, namely Replay-Attack, MSU-MFSD, CASIA-FASD and OULU-NPU, demonstrate that the proposed framework provides promising generalization capability and encourage further study in this domain

Face antispoofing using speeded-up robust features and Fisher vector encoding

Abstract The vulnerabilities of face biometric authentication systems to spoofing attacks have received a significant attention during the recent years. Some of the proposed countermeasures have achieved impressive results when evaluated on intratests, i.e., the system is trained and tested on the same database. Unfortunately, most of these techniques fail to generalize well to unseen attacks, e.g., when the system is trained on one database and then evaluated on another database. This is a major concern in biometric antispoofing research that is mostly overlooked. In this letter, we propose a novel solution based on describing the facial appearance by applying Fisher vector encoding on speeded-up robust features extracted from different color spaces. The evaluation of our countermeasure on three challenging benchmark face-spoofing databases, namely the CASIA face antispoofing database, the replay-attack database, and MSU mobile face spoof database, showed excellent and stable performance across all the three datasets. Most importantly, in interdatabase tests, our proposed approach outperforms the state of the art and yields very promising generalization capabilities, even when only limited training data are used

Continuous authentication of smartphones based on application usage

Abstract An empirical investigation of active/continuous authentication for smartphones is presented by exploiting users’ unique application usage data, i.e., distinct patterns of use, modeled by a Markovian process. Specifically, variations of hidden Markov models (HMMs) are evaluated for continuous user verification, and challenges due to the sparsity of session-wise data, an explosion of states, and handling unforeseen events in the test data are tackled. Unlike traditional approaches, the proposed formulation utilizes the complete app-usage information to achieve low latency. Through experimentation, empirical assessment of the impact of unforeseen events, i.e., unknown applications and unforeseen observations, on user verification is done via a modified edit-distance algorithm for sequence matching. It is found that for enhanced verification performance, unforeseen events should be considered. For validation, extensive experiments on two distinct datasets, namely, UMDAA-02 and Securacy, are performed. Using the marginally smoothed HMM a low equal error rate (EER) of 16.16% is reached for the Securacy dataset and the same method is found to be able to detect an intrusion within ~2.5 min of application use

OULU-NPU:a mobile face presentation attack database with real-world variations

Abstract The vulnerabilities of face-based biometric systems to presentation attacks have been finally recognized but yet we lack generalized software-based face presentation attack detection (PAD) methods performing robustly in practical mobile authentication scenarios. This is mainly due to the fact that the existing public face PAD datasets are beginning to cover a variety of attack scenarios and acquisition conditions but their standard evaluation protocols do not encourage researchers to assess the generalization capabilities of their methods across these variations. In this present work, we introduce a new public face PAD database, OULU-NPU, aiming at evaluating the generalization of PAD methods in more realistic mobile authentication scenarios across three covariates: unknown environmental conditions (namely illumination and background scene), acquisition devices and presentation attack instruments (PAI). This publicly available database consists of 5940 videos corresponding to 55 subjects recorded in three different environments using high-resolution frontal cameras of six different smartphones. The high-quality print and video-replay attacks were created using two different printers and two different display devices. Each of the four unambiguously defined evaluation protocols introduces at least one previously unseen condition to the test set, which enables a fair comparison on the generalization capabilities between new and existing approaches. The baseline results using color texture analysis based face PAD method demonstrate the challenging nature of the database

Generalized face anti-spoofing by detecting pulse from face videos

Abstract Face biometric systems are vulnerable to spoofing attacks. Such attacks can be performed in many ways, including presenting a falsified image, video or 3D mask of a valid user. A widely used approach for differentiating genuine faces from fake ones has been to capture their inherent differences in (2D or 3D) texture using local descriptors. One limitation of these methods is that they may fail if an unseen attack type, e.g. a highly realistic 3D mask which resembles real skin texture, is used in spoofing. Here we propose a robust anti-spoofing method by detecting pulse from face videos. Based on the fact that a pulse signal exists in a real living face but not in any mask or print material, the method could be a generalized solution for face liveness detection. The proposed method is evaluated first on a 3D mask spoofing database 3DMAD to demonstrate its effectiveness in detecting 3D mask attacks. More importantly, our cross-database experiment with high quality REAL-F masks shows that the pulse based method is able to detect even the previously unseen mask type whereas texture based methods fail to generalize beyond the development data. Finally, we propose a robust cascade system combining two complementary attack-specific spoof detectors, i.e. utilize pulse detection against print attacks and color texture analysis against video attacks