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Search indexed NASA NTRS and DOE OSTI research on propulsion, heat transfer, battery materials and energy systems. Follow report and document links to the original sources.

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At least 19 records

PCR Based Microbial Monitor for Analysis of Recycled Water Aboard the ISSA: Issues and Prospects

The monitoring of spacecraft life support systems for the presence of health threatening microorganisms is paramount for crew well being and successful completion of missions. Development of technology to monitor spacecraft recycled water based on detection and identification of the genetic material of contaminating microorganisms and viruses would be a substantial improvement over current NASA plans to monitor recycled water samples that call for the use of conventional microbiology techniques which are slow, insensitive, and labor intensive. The union of the molecular biology techniques of DNA probe hybridization and polymerase chain reaction (PCR) offers a powerful method for the detection, identification, and quantification of microorganisms and viruses. This technology is theoretically capable of assaying samples in as little as two hours with specificity and sensitivity unmatched by any other method. A major advance in probe-hybridization/PCR has come about in a technology called TaqMan(TM), which was invented by Perkin Elmer. Instrumentation using TaqMan concepts is evolving towards devices that could meet NASA's needs of size, low power use, and simplicity of operation. The chemistry and molecular biology needed to utilize these probe-hybridization/PCR instruments must evolve in parallel with the hardware. The following issues of chemistry and biology must be addressed in developing a monitor: Early in the development of a PCR-based microbial monitor it will be necessary to decide how many and which organisms does the system need the capacity to detect. We propose a set of 17 different tests that would detect groups of bacteria and fungus, as well as specific eukaryotic parasites and viruses; In order to use the great sensitivity of PCR it will be necessary to concentrate water samples using filtration. If a lower limit of detection of 1 microorganism per 100 ml is required then the microbes in a 100 ml sample must be concentrated into a volume that can be added to a PCR assay; There are not likely to be contaminants in ISSA recycled water that would inhibit PCR resulting in false-negative results; The TaqMan PCR product detection system is the most promising method for developing a rapid, highly automated gene-based microbial monitoring system. The method is inherently quantitative. NASA and other government agencies have invested in other technologies that, although potentially could lead to revolutionary advances, are not likely to mature in the next 5 years into working systems; PCR-based methods cannot distinguish between DNA or RNA of a viable microorganism and that of a non-viable organism. This may or may not be an important issue with reclaimed water on the ISSA. The recycling system probably damages the capacity of the genetic material of any bacteria or viruses killed during processing to serve as a template in a PCR desinged to amplify a large segment of DNA (less than 650 base pairs). If necessary, vital dye staining could be used in addition to PCR, to enumerate the viable cells in a water sample; The quality control methods have been developed to insure that PCR's are working properly, and that reactions are not contaminated with PCR carryover products which could lead to the generation of false-positive results; and The sequences of the small rRNA subunit gene for a large number of microorganisms are known, and they consititue the best database for rational development of the oligonucleotide reagents that give PCR its great specificity. From those gene sequences, sets of oligonucleotide primers for PCR and Taqman detection that could be used in a NASA microbial monitor were constructed using computer based methods. In addition to space utilization, a microbial monitior will have tremendous terrestrial applications. Analysis of patient samples for microbial pathogens, testing industrial effluent for biofouling bacteria, and detection biological warfare agents on the battlefield are but a few of the diverse potential uses for this technology. Once fully developed, gene-based microbial monitors will become the fundamental tool in every lab that tests for microbial contaminants, and serve as a powerful weapon in mankind's war with the germ world.

Cassell, Gail H.↗

Estimating coccidioidomycosis endemicity while accounting for imperfect detection using spatio - temporal occupancy modeling

Coccidioidomycosis, or Valley fever, is an infectious disease caused by inhaling Coccidioides fungal spores. Incidence has risen in recent years, and it is believed the endemic region for Coccidioides is expanding in response to climate change. While Valley fever case data can help us understand trends in disease risk, using case data as a proxy for Coccidioides endemicity is not ideal because case data suffers from imperfect detection, including false positives (e.g., travel-related cases reported outside of endemic area) and false negatives (e.g., misdiagnosis or underreporting). Here we proposed a Bayesian, spatio-temporal occupancy model to relate monthly, county-level presence/absence data on Valley fever cases to latent endemicity of Coccidioides, accounting for imperfect detection. We used our model to estimate endemicity in the western United States. We estimated high probability of endemicity in southern California, Arizona, and New Mexico, but also in regions without mandated reporting, including western Texas, eastern Colorado, and southeastern Washington. We also quantified spatio-temporal variability in detectability of Valley fever, given an area is endemic to Coccidioides. We estimated an inverse relationship between lagged 3- and 9-month precipitation and case detection, and a positive association with agriculture. This work can help inform public health surveillance needs and identify areas that would benefit from mandatory case reporting.

60 APPLIED LIFE SCIENCES↗

Ultra-high Information-content Chemical Imaging with Broadband Coherent Anti-Stokes Raman and Two-photon Fluorescence Lifetime Microscopy

Raman fingerprint spectroscopy and fluorescence lifetime imaging are emerging tools for studying metabolic profiles of biological specimens. While Raman fingerprint spectroscopy detects intrinsic molecular vibrations that reflect the molecular composition and chemical environment of a sample, fluorescence lifetime imaging measures changes in the excited-state lifetime of fluorophores that are sensitive to their microenvironments. Here, we present a multimodal imaging platform combining broadband coherent anti-Stokes Raman scattering (BCARS) and two-photon fluorescence lifetime imaging (2p-FLIM) microscopy that can acquire biologically relevant Raman fingerprint spectra and fluorescence lifetime signals in vivo and simultaneously. The tremendous chemical information obtained from spatially co-registered BCARS and 2p-FLIM images allows us to characterize the subtle differences between sub-cellular compartments and verify the potential false-positive results generated by fluorescence imaging alone. This is demonstrated by directly comparing the BCARS, 2p-FLIM, and two-photon excitation fluorescence(TPEF) signals simultaneously obtained from the same dye-stained organelle in the live, intact C. elegans expressing a green fluorescent protein (GFP) marker. In this work, we introduce the BCARS/2p-FLIM/TPEF setup scheme, the image acquisition steps, data processing, and representative results showing that the cross-modality imaging method enables rigorous characterization and in vivo detection at sub-cellular resolution. Furthermore, this protocol provides a framework for simultaneous chemical and fluorescence lifetime imaging to improve the accuracy of biological interpretation in complex living systems.

Xu, Haoyu [Georgia Institute of Technology, Atlant↗

Mono-mix strategy enables comparative proteomics of a cross-kingdom microbial symbiosis

Cross-kingdom microbial symbioses, such as those between algae and bacteria, are key players in biogeochemical cycles. The molecular changes during initiation and establishment of symbiosis are of great interest, but quantitatively monitoring such changes can be challenging, particularly when the microorganisms differ greatly in size or are intimately associated. Here, we analyze output from label-free, data-dependent acquisition (DDA) LC-MS/MS proteomics experiments investigating the well-studied interaction between the alga Chlamydomonas reinhardtii and the heterotrophic bacterium Mesorhizobium japonicum. We found that detection of bacterial proteins decreased in coculture by 50% proteome-wide due to the abundance of algal proteins. As a result, standard differential expression analysis led to numerous false-positive reports of significantly downregulated proteins, where it was not possible to distinguish meaningful biological responses to symbiosis from artifacts of the reduced protein detection in coculture relative to monoculture. We show that data normalization alone does not eliminate the impact of altered detection on differential expression analysis of the cross-kingdom symbiosis. We assessed two additional strategies to overcome this methodological artifact inherent to DDA proteomics. In the first, we combined algal and bacterial monocultures at a relative abundance that mimicked the coculture, creating a “mono-mix” control to which the coculture could be compared. This approach enabled comparable detection of bacterial proteins in the coculture and the monoculture control. In the second strategy, we enhanced detection of lowly abundant bacterial proteins by using sample fractionation upstream of LC-MS/MS analysis. When these simple approaches were combined, they allowed for meaningful comparisons of nearly 10,000 algal proteins and over 4,000 bacterial proteins in response to symbiosis by DDA. They successfully recovered expected changes in the bacterial proteome in response to algal coculture, including upregulation of sugar-binding proteins and transporters. They also revealed novel proteomic responses to coculture that guide hypotheses about algal-bacterial interactions.

Dupuis, Sunnyjoy [University of California, Berkel↗

Systems engingeering for the Kepler Mission : a search for terrestrial planets

The Kepler mission will launch in 2007 and determine the distribution of earth-size planets (0.5 to 10 earth masses) in the habitable zones (HZs) of solar-like stars. The mission will monitor > 100,000 dwarf stars simultaneously for at least 4 years. Precision differential photometry will be used to detect the periodic signals of transiting planets. Kepler will also support asteroseismology by measuring the pressure-mode (p-mode) oscillations of selected stars. Key mission elements include a spacecraft bus and 0.95 meter, wide-field, CCD-based photometer injected into an earth-trailing heliocentric orbit by a 3-stage Delta II launch vehicle as well as a distributed Ground Segment and Follow-up Observing Program. The project is currently preparing for Preliminary Design Review (October 2004) and is proceeding with detailed design and procurement of long-lead components. In order to meet the unprecedented photometric precision requirement and to ensure a statistically significant result, the Kepler mission involves technical challenges in the areas of photometric noise and systematic error reduction, stability, and false-positive rejection. Programmatic and logistical challenges include the collaborative design, modeling, integration, test, and operation of a geographically and functionally distributed project. A very rigorous systems engineering program has evolved to address these challenges. This paper provides an overview of the Kepler systems engineering program, including some examples of our processes and techniques in areas such as requirements synthesis, validation & verification, system robustness design, and end-to-end performance modeling.

systems engineering↗

A framework to evaluate machine learning crystal stability predictions

The rapid adoption of machine learning in various scientific domains calls for the development of best practices and community agreed-upon benchmarking tasks and metrics. We present Matbench Discovery as an example evaluation framework for machine learning energy models, here applied as pre-filters to first-principles computed data in a high-throughput search for stable inorganic crystals. We address the disconnect between (1) thermodynamic stability and formation energy and (2) retrospective and prospective benchmarking for materials discovery. Alongside this paper, we publish a Python package to aid with future model submissions and a growing online leaderboard with adaptive user-defined weighting of various performance metrics allowing researchers to prioritize the metrics they value most. To answer the question of which machine learning methodology performs best at materials discovery, our initial release includes random forests, graph neural networks, one-shot predictors, iterative Bayesian optimizers and universal interatomic potentials. We highlight a misalignment between commonly used regression metrics and more task-relevant classification metrics for materials discovery. Accurate regressors are susceptible to unexpectedly high false-positive rates if those accurate predictions lie close to the decision boundary at 0 eV per atom above the convex hull. The benchmark results demonstrate that universal interatomic potentials have advanced sufficiently to effectively and cheaply pre-screen thermodynamic stable hypothetical materials in future expansions of high-throughput materials databases.

Riebesell, Janosh↗

Support for Systematic Code Reviews with the SCRUB Tool

SCRUB is a code review tool that supports both large, team-based software development efforts (e.g., for mission software) as well as individual tasks. The tool was developed at JPL to support a new, streamlined code review process that combines human-generated review reports with program-generated review reports from a customizable range of state-of-the-art source code analyzers. The leading commercial tools include Codesonar, Coverity, and Klocwork, each of which can achieve a reasonably low rate of false-positives in the warnings that they generate. The time required to analyze code with these tools can vary greatly. In each case, however, the tools produce results that would be difficult to realize with human code inspections alone. There is little overlap in the results produced by the different analyzers, and each analyzer used generally increases the effectiveness of the overall effort. The SCRUB tool allows all reports to be accessed through a single, uniform interface (see figure) that facilitates brows ing code and reports. Improvements over existing software include significant simplification, and leveraging of a range of commercial, static source code analyzers in a single, uniform framework. The tool runs as a small stand-alone application, avoiding the security problems related to tools based on Web browsers. A developer or reviewer, for instance, must have already obtained access rights to a code base before that code can be browsed and reviewed with the SCRUB tool. The tool cannot open any files or folders to which the user does not already have access. This means that the tool does not need to enforce or administer any additional security policies. The analysis results presented through the SCRUB tool s user interface are always computed off-line, given that, especially for larger projects, this computation can take longer than appropriate for interactive tool use. The recommended code review process that is supported by the SCRUB tool consists of three phases: Code Review, Developer Response, and Closeout Resolution. In the Code Review phase, all tool-based analysis reports are generated, and specific comments from expert code reviewers are entered into the SCRUB tool. In the second phase, Developer Response, the developer is asked to respond to each comment and tool-report that was produced, either agreeing or disagreeing to provide a fix that addresses the issue that was raised. In the third phase, Closeout Resolution, all disagreements are discussed in a meeting of all parties involved, and a resolution is made for all disagreements. The first two phases generally take one week each, and the third phase is concluded in a single closeout meeting.

Holzmann, Gerald J.↗

Follow-up Imaging of Disk Candidates from the Disk Detective Citizen Science Project: New Discoveries and False Positives in WISE Circumstellar Disk Surveys

The Disk Detective citizen science project aims to find new stars with excess 22 m emission from circumstellar dust in the All WISE data release from the Wide-field Infrared Survey Explorer. We evaluated 261 Disk Detective objects of interest with imaging with the Robo-AO adaptive optics instrument on the 1.5 m telescope at Palomar Observatory and with RetroCam on the 2.5 m du Pont Telescope at Las Campanas Observatory to search for background objects at 0 15–12 separations from each target. Our analysis of these data leads us to reject 7% of targets. Combining this result with statistics from our online image classification efforts implies that at most7.9%±0.2% of All WISE-selected infrared excesses are good disk candidates. Applying our false-positive rates to other surveys, we find that the infrared excess searches of McDonald et al. and Marton et al. all have false-positiverates >70%. Moreover, we find that all 13 disk candidates in Theissen & West with W4 signal-to-noise ratio >3are false positives. We present 244 disk candidates that have survived vetting by follow-up imaging. Of these,213 are newly identified disk systems. Twelve of these are candidate members of comoving pairs based on Gaia astrometry, supporting the hypothesis that warm dust is associated with binary systems. We also note the discovery of 22 m excess around two known members of the Scorpius–Centaurus association, and we identifyknown disk host WISEA J164540.79-310226.6 as a likely Sco-Cen member. Thirty of these disk candidates arecloser than 125 pc (including 26 debris disks), making them good targets for both direct-imaging exoplanetsearches.

Wide-field Infrared Survey Explorer↗

Nine lensed quasars and quasar pairs discovered through spatially extended variability in Pan-STARRS

We present the proof of concept of a method for finding strongly lensed quasars using their spatially extended photometric variability through difference imaging in cadenced imaging survey data. We applied the method to Pan-STARRS, starting with an initial selection of 14 107Gaiamultiplets with quasar-like infrared colours from WISE. We identified 229 candidates showing notable spatially extended variability during the Pan-STARRS survey period. These include 20 known lenses and an additional 12 promising candidates for which we obtained long-slit spectroscopy follow-up. This process resulted in the confirmation of four doubly lensed quasars, four unclassified quasar pairs, and one projected quasar pair. Only three are pairs of stars or quasar+star projections. The false-positive rate accordingly is 25%. The lens separations are between 0.81″ and 1.24″, and the source redshifts lie betweenz = 1.47 andz = 2.46. Three of the unclassified quasar pairs are promising dual-quasar candidates with separations ranging from 6.6 to 9.3 kpc. We expect that this technique is a particularly efficient way to select lensed variables in the upcomingRubin-LSST, which will be crucial given the expected limitations for spectroscopic follow-up.

Astronomy & Astrophysics↗

Numerical solutions for viscous and potential flow about arbitrary two-dimensional bodies using body-fitted coordinate systems

A procedure for numerical solution of the time-dependent, incompressible Navier-Stokes equations for the flow about arbitrarily shaped two-dimensional bodies is given. This solution is based on a technique of automatic numerical generation of a curvilinear coordinate system having a coordinate line coincident with the body contour regardless of its shape. The implicit solution utilizes the vorticity-stream function formulation with a false-position iterative adjustment of the surface vorticity in satisfaction of the no-slip boundary condition. Excellent agreement with the Blasius boundary layer solution is obtained for a semi-infinite flat plate. Results are presented for Reynolds numbers up to 2000 for several airfoils and a cambered rock.

Thames, F. C.↗

Testing Saliency Parameters for Automatic Target Recognition

A bottom-up visual attention model (the saliency model) is tested to enhance the performance of Automated Target Recognition (ATR). JPL has developed an ATR system that identifies regions of interest (ROI) using a trained OT-MACH filter, and then classifies potential targets as true- or false-positives using machine-learning techniques. In this project, saliency is used as a pre-processing step to reduce the space for performing OT-MACH filtering. Saliency parameters, such as output level and orientation weight, are tuned to detect known target features. Preliminary results are promising and future work entails a rigrous and parameter-based search to gain maximum insight about this method.

regions of interest (ROI)↗

Diagnostic accuracy of an ultrasonic multiple transducer cardiac imaging system

An ultrasonic multiple-transducer imaging system for intracardiac structure visualization is developed in order to simplify visualization of the human heart in vivo without radiation hazard or invasion of the body. Results of the evaluation of the diagnostic accuracy of the devised system in a clinical setting for adult patients are presented and discussed. Criteria are presented for recognition of mitral valva prolapse, mitral stenosis, pericardial effusion, atrial septal defect, and left ventricular dyssynergy. The probable cause for false-positive and false-negative diagnoses is discussed. However, hypertrophic myopathy and congestive myopathy were unable to be detected. Since only qualitative criteria were used, it was not possible to differentiate patients with left ventricular volume overload from patients without cardiac pathology.

Popp, R. L.↗

Archetype-based Redshift Estimation for the Dark Energy Spectroscopic Instrument Survey

We present a computationally efficient galaxy archetype-based redshift estimation and spectral classification method for the Dark Energy Survey Instrument (DESI) survey. The DESI survey currently relies on a redshift fitter and spectral classifier using a linear combination of principal component analysis–derived templates, which is very efficient in processing large volumes of DESI spectra within a short time frame. However, this method occasionally yields unphysical model fits for galaxies and fails to adequately absorb calibration errors that may still be occasionally visible in the reduced spectra. Our proposed approach improves upon this existing method by refitting the spectra with carefully generated physical galaxy archetypes combined with additional terms designed to absorb data reduction defects and provide more physical models to the DESI spectra. We test our method on an extensive data set derived from the survey validation (SV) and Year 1 (Y1) data of DESI. Our findings indicate that the new method delivers marginally better redshift success for SV tiles while reducing catastrophic redshift failure by 10%–30%. At the same time, results from millions of targets from the main survey show that our model has relatively higher redshift success and purity rates (0.5%–0.8% higher) for galaxy targets while having similar success for QSOs. These improvements also demonstrate that the main DESI redshift pipeline is generally robust. Additionally, it reduces the false-positive redshift estimation by 5%–40% for sky fibers. We also discuss the generic nature of our method and how it can be extended to other large spectroscopic surveys, along with possible future improvements.

46 INSTRUMENTATION RELATED TO NUCLEAR SCIENCE AND ↗

The NANOGrav 11 yr data set: Evolution of Gravitational-wave Background Statistics

An ensemble of inspiraling supermassive black hole binaries should produce a stochastic background of very low frequency gravitational waves. This stochastic background is predicted to be a power law, with a gravitational-wave strain spectral index of −2/3, and it should be detectable by a network of precisely timed millisecond pulsars, widely distributed on the sky. This paper reports a new “time slicing” analysis of the 11 yr data release from the North American Nanohertz Observatory for Gravitational Waves (NANOGrav) using 34 millisecond pulsars. Methods to flag potential “false-positive” signatures are developed, including techniques to identify responsible pulsars. Mitigation strategies are then presented. We demonstrate how an incorrect noise model can lead to spurious signals, and we show how independently modeling noise across 30 Fourier components, spanning NANOGrav’s frequency range, effectively diagnoses and absorbs the excess power in gravitational-wave searches. This results in a nominal, and expected, progression of our gravitational-wave statistics. Additionally, we show that the first interstellar medium event in PSR J1713+0747 pollutes the common red-noise process with low spectral index noise, and we use a tailored noise model to remove these effects.

J S Hazboun↗

Obtaining Accurate Change Detection Results from High-Resolution Satellite Sensors

Multi-date acquisitions of high-resolution imaging satellites (e.g. GeoEye and WorldView), can display local changes of current economic interest. However, their large data volume precludes effective manual analysis, requiring image co-registration followed by image-to-image change detection, preferably with minimal analyst attention. We have recently developed an automatic change detection procedure that minimizes false-positives. The processing steps include: (a) Conversion of both the pre- and post- images to reflectance values (this step is of critical importance when different sensors are involved); reflectance values can be either top-of-atmosphere units or have full aerosol optical depth calibration applied using bi-directional reflectance knowledge. (b) Panchromatic band image-to-image co-registration, using an orthorectified base reference image (e.g. Digital Orthophoto Quadrangle) and a digital elevation model; this step can be improved if a stereo-pair of images have been acquired on one of the image dates. (c) Pan-sharpening of the multispectral data to assure recognition of change objects at the highest resolution. (d) Characterization of multispectral data in the post-image ( i.e. the background) using unsupervised cluster analysis. (e) Band ratio selection in the post-image to separate surface materials of interest from the background. (f) Preparing a pre-to-post change image. (g) Identifying locations where change has occurred involving materials of interest.

multispectral↗

Zeteotech, LLC TRGR Project Final Report

Reliable detection of aerosolized pathogens is difficult due to need to distinguish between the benign bioaerosols such as dander and pollen and the thousands of pathogens capable of infecting people. Accurate identification of airborne pathogens of concern in the past has required the collection of aerosol samples in a filter, periodic collection of the samples, and processing and identification in the laboratory. This process is labor intensive and expensive. Additionally, this method necessarily has a time to detection window of hours to days depending on the collection frequency. Biological pathogens have an incubation period before the onset of symptoms and severe health effects and/or mortality, people will typically be exposed to them without realizing it. This has resulted in a detect to treat strategy for protection against bio releases. While prophylactic measures can still be effective over these time scales, reducing the time to detection will significantly improve the effectiveness of these measures and subsequently reduce the consequences of a release. Various attempts to reduce the time to detection and identification have been plagued by highly undesirable false-positives which degrade confidence in the system. Zeteotech, LLC has developed a mass spectrometer based bioaerosol sensing system which is capable of autonomously identifying airborne pathogens of concern and alert authorities within minutes instead of hours to days. They have deployed these instruments to protect high-risk facilities by alerting authorities of public health events and intentional bioterrorism events in near real time. This makes it possible to more accurately identify the time and location of the release and minimize the number of people that are exposed through prompt quarantining of affected areas.

47 OTHER INSTRUMENTATION↗

Kepler Planet Detection Mission: Introduction and First Results

The Kepler Mission is designed to determine the frequency of Earth-size and rocky planets in and near the habitable zone (HZ) of solar-like stars. The HZ is defined to be the region of space where a rocky planet could maintain liquid water on its surface. Kepler is the 10th competitively-selected Discovery Mission and was launched on March 6, 2009. Since completing its commissioning, Kepler has observed over 156,000 stars simultaneously and near continuously to search for planets that periodically pass in front of their host star (transit). The photometric precision is approximately 23 ppm for 50% of the 12th magnitude dwarf stars for an integration period of 6.5 hours. During the first 3 months of operation the photometer detected transit-like signatures from more than 200 stars. Careful examination shows that many of these events are false-positives such as small stars orbiting large stars or blends of target stars with eclipsing binary stars. Ground-based follow-up observations confirm the discovery of five new exoplanets with sizes between 0.37 andl.6 Jupiter radii (R(sub J)) and orbital periods ranging from 3.2 to 4.9 days. Ground-based observations with the Keck 1, Hobby-Ebberly, Hale, WIYN, MMT, Tillinghast, Shane, and Nordic Optical Telescopes are used to vet the planetary candidates and measure the masses of the putative planets. Observations of occultations and phase variations of hot, short-period planets such as HT-P-7b provide a probe of atmospheric properties. Asteroseismic analysis already shows the presence of p-mode oscillations in several stars. Such observations will be used to measure the mean stellar density and infer the stellar size and age. For stars too dim to permit asteroseismology, observations of the centroid motion of target stars will be used to measure the parallax and be combined with photometric measurements to estimate stellar sizes. Four open clusters are being observed to determine stellar rotation rates as a function of age and spectral type. Many different types of stellar variability are observed with unprecedented precision and over a wide range of time scales. Solar-like photometric variability of thousands of field stars is being studied to determine how photometric variability and the stellar rotation rates change with stellar age and metallicity. A wide variety of other astrophysical phenomena have also been observed. The data are being analyzed at the Ames Research Center and archived at the MAST at STScI. The Kepler Mission also supports a vigorous Guest Observer Program.

Borucki, William↗

Improved detection of low-frequency within-host variants from deep sequencing: A case study with human papillomavirus

Abstract High-coverage sequencing allows the study of variants occurring at low frequencies within samples, but is susceptible to false-positives caused by sequencing error. Ion Torrent has a very low single nucleotide variant (SNV) error rate and has been employed for the majority of human papillomavirus (HPV) whole genome sequences. However, benchmarking of intrahost SNVs (iSNVs) has been challenging, partly due to limitations imposed by the HPV life cycle. We address this problem by deep sequencing three replicates for each of 31 samples of HPV type 18 (HPV18). Errors, defined as iSNVs observed in only one of three replicates, are dominated by C→T (G→A) changes, independently of trinucleotide context. True iSNVs, defined as those observed in all three replicates, instead show a more diverse SNV type distribution, with particularly elevated C→T rates in CCG context (CCG→CTG; CGG→CAG) and C→A rates in ACG context (ACG→AAG; CGT→CTT). Characterization of true iSNVs allowed us to develop two methods for detecting true variants: (1) VCFgenie, a dynamic binomial filtering tool which uses each variant’s allele count and coverage instead of fixed frequency cut-offs; and (2) a machine learning binary classifier which trains eXtreme Gradient Boosting models on variant features such as quality and trinucleotide context. Each approach outperforms fixed-cut-off filtering of iSNVs, and performance is enhanced when both are used together. Our results provide improved methods for identifying true iSNVs in within-host applications across sequencing platforms, specifically using HPV18 as a case study.

Virology↗