Search

Background: The availability of whole-genome sequencing data in large studies has enabled the assessment of coding and noncoding variants across the allele frequency spectrum for their associations with blood pressure. Methods: We conducted a multiancestry whole-genome sequencing analysis of blood pressure among 51 456 Trans-Omics for Precision Medicine and Centers for Common Disease Genomics program participants (stage-1). Stage-2 analyses leveraged array data from UK Biobank (N=383 145), Million Veteran Program (N=318 891), and Reasons for Geographic and Racial Differences in Stroke (N=10 643) participants, along with whole-exome sequencing data from UK Biobank (N=199 631) participants. Results: Two blood pressure signals achieved genome-wide significance in meta-analyses of stage-1 and stage-2 single variant findings ( P -8 ). Among them, a rare intergenic variant at novel locus, LOC100506274 , was associated with lower systolic blood pressure in stage-1 (beta [SE]=−32.6 [6.0]; P =4.99×10 -8 ) but not stage-2 analysis ( P =0.11). Furthermore, a novel common variant at the known INSR locus was suggestively associated with diastolic blood pressure in stage-1 (beta [SE]=−0.36 [0.07]; P =4.18×10 -7 ) and attained genome-wide significance in stage-2 (beta [SE]=−0.29 [0.03]; P =7.28×10 -23 ). Nineteen additional signals suggestively associated with blood pressure in meta-analysis of single and aggregate rare variant findings ( P -6 and P -4 , respectively). Discussion: We report one promising but unconfirmed rare variant for blood pressure and, more importantly, contribute insights for future blood pressure sequencing studies. Our findings suggest promise of aggregate analyses to complement single variant analysis strategies and the need for larger, diverse samples, and family studies to enable robust rare variant identification.

Invisibility has always been a field of human interest, which was never possible in the maximum of the physicists’ eyes. But the old ideas are fading away as Quantum Stealth is coming into existence as a new opportunity for cloaking. The technology is supposed to be used in military warfare and defence scenarios in Canada, especially satisfying the purpose of camouflage.

Genotype imputation is an integral tool in genome-wide association studies, in which it facilitates meta-analysis, increases power, and enables fine-mapping. With the increasing availability of whole-genome-sequence datasets, investigators have access to a multitude of reference-panel choices for genotype imputation. In principle, combining all sequenced whole genomes into a single large panel would provide the best imputation performance, but this is often cumbersome or impossible due to privacy restrictions. Here, we describe meta-imputation, a method that allows imputation results generated using different reference panels to be combined into a consensus imputed dataset. Our meta-imputation method requires small changes to the output of existing imputation tools to produce necessary inputs, which are then combined using dynamically estimated weights that are tailored to each individual and genome segment. In the scenarios we examined, the method consistently outperforms imputation using a single reference panel and achieves accuracy comparable to imputation using a combined reference panel.

Background Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant condition that predisposes to emphysema, cirrhosis, panniculitis, and vasculitis. Under-recognition has prompted efforts to enhance early detection and testing of at-risk individuals. Direct-to-consumer (DTC) genetic testing represents an additional method of detection. Research Question The study addressed three questions: 1) Does a DTC testing service identify previously undetected individuals with AATD? 2) What was the time interval between initial AATD-related symptoms and initial diagnosis of AATD in such individuals? and 3) What was the behavioral impact of learning about a new diagnosis of AATD through a DTC test? Study Design and Methods In this cross-sectional study, 195,014 individuals responded to a survey within the 23andMe, Inc. research platform. Results Among 195,014 study participants, the allele frequency for either the PI*S and PI*Z AATD variants was 21.6% (6.5% for PI*Z and 15.1% for PI*S); 0.63% were PI*ZZ, half of whom reported having a physician confirm the diagnosis. Approximately 27% of those with physician-diagnosed AATD reported first becoming aware of AATD through the DTC test. Among those newly-aware participants, the diagnostic delay interval was 22.3 years. Participants frequently shared their DTC test results with healthcare providers (HCPs) and the reported impact of learning a diagnosis of AATD was high. For example, 51.1% of PI*ZZ individuals shared their DTC result with an HCP. The odds ratio for PI*ZZ smokers to report smoking reduction as a result of receiving the DTC result was 1.7 [CI 1.4, 2.2] compared to those without a Z allele and for reduced alcohol consumption was 4.0 [CI 2.6, 5.9]. Interpretation In this largest available report on DTC testing for AATD, this test, in combination with clinical follow-up, can help to identify previously undiagnosed AATD patients. Moreover, receipt of the DTC AATD report was associated with positive behavior change, especially among those with risk variants.

Due to the existence of noise and spectral redundancies in hyperspectral images (HSIs), the band selection (BS) is highly required and can be achieved through the attention mechanism. However, existing BS methods fail to consider global interaction between the spectral information and spatial information in a nonlinear fashion. In this letter, we propose an end-to-end unsupervised dual-attention reconstruction network for BS (DARecNet-BS). The proposed network employs a dual-attention mechanism, i.e., position attention module (PAM) and channel attention module (CAM), to recalibrate the feature maps and subsequently uses a 3-D reconstruction network to restore the original HSI. This way, the long-range nonlinear contextual information in spectral and spatial directions is captured, and the informative band subset can be selected. Experiments are conducted on three well-known hyperspectral data sets, i.e., Indian Pines (IP), University of Pavia (UP), and Salinas (SA), to compare existing BS approaches, and the proposed DARecNet-BS can effectively select less redundant bands with comparable or better classification accuracy. The source code will be made publicly available at https://github.com/ucalyptus/DARecNet-BS.

Progress in GIS technology has facilitated the topographic position index (TPI)-based auto-classification of landform units. Multispectral satellite images, when used along with terrain analysis output, provide valuable information on structure, soil, land use land cover (LULC), hazards etc. The present work makes an endeavour to classify landforms using TPI and assess its distribution pattern across different LULC segments in the Kaljani River Basin of the Sub-Himalayan region. An attempt is also made to analyse the inundation pattern during the most recent major flood (2016) across the landform and LULC units. The Kaljani Basin is occupied by upper slopes, mountain tops and gorges in its upper (northern) part, while its lower (southern) part is characterised by wide valleys and plains. The areas occupied by gorges and midslope drainages in the hills, and wide valleys in the foothills, are comparatively more exposed to fluvial erosion, as found from the topographic wetness index (TWI). LULC classification reveals that the northern and central parts of the basin have plenty of vegetation cover. Land use units like fallows, farmlands and built-up areas are more common in the southern part of the basin. During the flood of 2016, three-fourth of the total inundation occurred in the wide valleys and plains. More than 90% of the inundated areas are found in the human-modified terrain, indicating its susceptibility to the flood hazard.

The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole-genome sequencing of individuals with rich phenotypic data and diverse backgrounds. Here we describe the TOPMed goals and design as well as the available resources and early insights obtained from the sequence data. The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes)1. In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These rare variants provide insights into mutational processes and recent human evolutionary history. The extensive catalogue of genetic variation in TOPMed studies provides unique opportunities for exploring the contributions of rare and noncoding sequence variants to phenotypic variation. Furthermore, combining TOPMed haplotypes with modern imputation methods improves the power and reach of genome-wide association studies to include variants down to a frequency of approximately 0.01%., The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

Cloud computing simply means storing & accessing data and programs over the internet instead of your computers hard drive. The cloud is just a metaphor for the internet. An example of Cloud Computings process could also be Googles Gmail. Cloud computing is highly efficient, productive, safe & secure. Cloud computing consists of two terms One is Cloud which is a useful feature of computer technology to perform appropriate tasks. Computing may include computer hardware and software but must involve some form of a computer system. It is a type of operation of a computer that is fully dependent on exchanging computing resources rather than having local servers or personal devices to handle the appeal. Cloud refers to a public or semi-public space on transmission lines that exists between the endpoints of a transmission. Data that is transmitted across a WAN enters the network from one endpoint using a standard protocol. &nbsp

The Ganga–Brahmaputra–Meghna Delta (GBMD) at the northern apex of the Bay of Bengal, is the world’s largest in respect of area (c. 120 × 103 km2) as well as annual discharge of sediments (c. 109 t). Contributed by the Ganga River and its numerous distributaries, the southwestern part of the GBMD is known as the Ganga Delta which spans over a number of districts in Bangladesh and West Bengal (India). The Indian state of West Bengal occupies the western portion of the GBMD, where the delta plains drained by the Ganga and its distributaries measure 42,371 km2. The estimated population residing in this region in 2021 is about 76 million. The Ganga Delta is completely enveloped by the alluviums deposited by the floods and channel deposits in the last 10,000 years. Nearly every major river in the region is embanked on their both flanks to prevent overspilling during the high stages in the monsoon season (June–September). Floods occur nonetheless in years of exceptionally high rainfalls, often brought about by tropical cyclones, when these embankments are breached or overtopped by the river water.This study aims to delineate the flood-prone zones of the Gangetic West Bengal (GWB) based on the highest floods that occurred between 1995 and 2020, and to extract data on extension, land use and resident population of the flood-susceptible area on different administrative levels.Using five highest-magnitude flood events for five overlapping zones, it is found that 33% of the GWB is susceptible to inundation by floodwater. Overlying the inundation area over 226 administrative blocks of 14 districts of the region reveals that 51 highly populated blocks located close to the principal rivers are susceptible to flooding. The deepest flood localities of the east–central GWB noticeably coincides with the blocks with highest percentage of inundated area (>50%) and also with the blocks having fairly large population size. 77 out of 226 blocks are susceptible to inundation of 50% or more of their total area. On a higher level, if the distribution of flood inundation across the districts constituting the GWB is considered, the districts of Nadia and Murshidabad are found to have relatively more inundation area, with almost 16% of the total flood-susceptible area of the GWB lying within each of these districts, followed by Purba Medinipur (13%) and Malda (11%). The study connotes that floods and the region’s cultural landscape—consisting of farmlands, habitations, and lines of communications—are closely related. Floods occur despite all human endeavours to prevent them, affecting approximately 14,500 km2 area and 18 million people.

Adaptive pressures of human-induced rapid environmental changes and insular ecological conditions have led to behavioral innovations among behaviorally flexible nonhuman primates. Documenting long-term responses of threatened populations is vital for our understanding of species and location-specific adaptive capacities under fluctuating equilibrium. The Nicobar Long-tailed Macaque Macaca fascicularis umbrosus, an insular sub-species uses coconuts Cocos nucifera, an embedded cultivar as a food resource and is speculated to have enhanced its dependence as a result of anthropogenic and environmental alterations. We explored demographic patterns of use and abandonment of different phenophases of fresh coconuts. To study crop foraging strategies, we recorded daily entry and duration of forays into coconut plantations. We divided age-classes into early juvenile (13–36 months), late juvenile (37–72 months), and adults (>72 months) and classified phenophase of coconuts into six types. Consistent with the theory of life history strategies, late juveniles were found to use a greater number of coconuts, which was considerably higher in an urban troop but marginally higher in a forest-plantation dwelling group. Except in late juveniles, males consumed a higher number of coconuts than females in the remaining age-classes. Owing to developmental constraints, juveniles of both types used higher proportion of immature coconuts though adults showed equitable distribution across phenophases. Pattern of entries to plantations and duration of forays were uniform through the day in the urban troop but modulatory in the forest-plantation group, perhaps due to frequent and hostile human interferences. Observations corroborating adaptations to anthropogenic disturbances are described.

According to historical records of transatlantic slavery, traders forcibly deported an estimated 12.5 million people from ports along the Atlantic coastline of Africa between the 16th and 19th centuries, with global impacts reaching to the present day, more than a century and a half after slavery's abolition. Such records have fueled a broad understanding of the forced migration from Africa to the Americas yet remain underexplored in concert with genetic data. Here, we analyzed genotype array data from 50,281 research participants, which-combined with historical shipping documents-illustrate that the current genetic landscape of the Americas is largely concordant with expectations derived from documentation of slave voyages. For instance, genetic connections between people in slave trading regions of Africa and disembarkation regions of the Americas generally mirror the proportion of individuals forcibly moved between those regions. While some discordances can be explained by additional records of deportations within the Americas, other discordances yield insights into variable survival rates and timing of arrival of enslaved people from specific regions of Africa. Furthermore, the greater contribution of African women to the gene pool compared to African men varies across the Americas, consistent with literature documenting regional differences in slavery practices. This investigation of the transatlantic slave trade, which is broad in scope in terms of both datasets and analyses, establishes genetic links between individuals in the Americas and populations across Atlantic Africa, yielding a more comprehensive understanding of the African roots of peoples of the Americas.