81 research outputs found
Storage and Retrieval of a Microwave Field in a Spin Ensemble
We report the storage and retrieval of a small microwave field from a
superconducting resonator into collective excitations of a spin ensemble. The
spins are nitrogen-vacancy centers in a diamond crystal. The storage time of
the order of 30 ns is limited by inhomogeneous broadening of the spin ensemble.Comment: 4 pages + supplementary material. Submitted to PR
Illustration of quantum complementarity using single photons interfering on a grating
A recent experiment performed by S. S. Afshar et al. has been interpreted as
a violation of Bohr's complementarity principle between interference visibility
and which-path information in a two-path interferometer. We have reproduced
this experiment, using true single-photon pulses propagating in a two-path
wavefront- splitting interferometer realized with a Fresnel's biprism, and
followed by a grating with adjustable transmitting slits. The measured values
of interference visibility V and which-path information, characterized by the
distinguishability parameter D, are found to obey the complementarity relation
V^2+D^2=<1. This result demonstrates that the experiment can be perfectly
explained by the Copenhagen interpretation of quantum mechanics.Comment: 11 pages, 5 figure
A robust, scanning quantum system for nanoscale sensing and imaging
Controllable atomic-scale quantum systems hold great potential as sensitive
tools for nanoscale imaging and metrology. Possible applications range from
nanoscale electric and magnetic field sensing to single photon microscopy,
quantum information processing, and bioimaging. At the heart of such schemes is
the ability to scan and accurately position a robust sensor within a few
nanometers of a sample of interest, while preserving the sensor's quantum
coherence and readout fidelity. These combined requirements remain a challenge
for all existing approaches that rely on direct grafting of individual solid
state quantum systems or single molecules onto scanning-probe tips. Here, we
demonstrate the fabrication and room temperature operation of a robust and
isolated atomic-scale quantum sensor for scanning probe microscopy.
Specifically, we employ a high-purity, single-crystalline diamond nanopillar
probe containing a single Nitrogen-Vacancy (NV) color center. We illustrate the
versatility and performance of our scanning NV sensor by conducting
quantitative nanoscale magnetic field imaging and near-field single-photon
fluorescence quenching microscopy. In both cases, we obtain imaging resolution
in the range of 20 nm and sensitivity unprecedented in scanning quantum probe
microscopy
Data-Driven Key Performance Indicators and Datasets for Building Energy Flexibility: A Review and Perspectives
Energy flexibility, through short-term demand-side management (DSM) and
energy storage technologies, is now seen as a major key to balancing the
fluctuating supply in different energy grids with the energy demand of
buildings. This is especially important when considering the intermittent
nature of ever-growing renewable energy production, as well as the increasing
dynamics of electricity demand in buildings. This paper provides a holistic
review of (1) data-driven energy flexibility key performance indicators (KPIs)
for buildings in the operational phase and (2) open datasets that can be used
for testing energy flexibility KPIs. The review identifies a total of 81
data-driven KPIs from 91 recent publications. These KPIs were categorized and
analyzed according to their type, complexity, scope, key stakeholders, data
requirement, baseline requirement, resolution, and popularity. Moreover, 330
building datasets were collected and evaluated. Of those, 16 were deemed
adequate to feature building performing demand response or building-to-grid
(B2G) services. The DSM strategy, building scope, grid type, control strategy,
needed data features, and usability of these selected 16 datasets were
analyzed. This review reveals future opportunities to address limitations in
the existing literature: (1) developing new data-driven methodologies to
specifically evaluate different energy flexibility strategies and B2G services
of existing buildings; (2) developing baseline-free KPIs that could be
calculated from easily accessible building sensors and meter data; (3) devoting
non-engineering efforts to promote building energy flexibility, such as
designing utility programs, standardizing energy flexibility quantification and
verification processes; and (4) curating datasets with proper description for
energy flexibility assessments.Comment: 30 pages, 14 figures, 4 table
Primary PEComa of the bladder treated with primary excision and adjuvant interferon-alpha immunotherapy: a case report
BACKGROUND: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms of uncertain malignant potential, which have in common the co-expression of muscle and melanocytic immunohistochemical markers. CASE PRESENTATION: A 48-year-old man presented with dysuria, passage of urinary sediment and lower abdominal discomfort. A three centimeter mass was identified by cystoscopy in the posterior midline of the bladder. Computerized tomography suggested an enterovesical fistula. The patient underwent laparotomy, partial cystectomy and partial small bowel resection. Pathological examination revealed PEComa of the bladder. The patient underwent adjuvant interferon-α immunotherapy. Subsequent follow-up procedures, including cystoscopy and imaging, have not revealed evidence of recurrence. The patient is clinically free of disease 48 months after surgery. CONCLUSION: This case represents the second documented PEComa of bladder and demonstrates that adjuvant therapies, including anti-angiogenic and immunotherapy, may be considered for patients with locally advanced or metastatic genitourinary PEComa
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
BACKGROUND: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25–30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome. METHODS: We undertook WGS on a cohort of 122 unrelated rare disease patients and their relatives (300 genomes) who had been pre-screened by gene panels or arrays. Patients were recruited from a broad spectrum of clinical specialties. We applied a bioinformatics pipeline that would allow comprehensive analysis of all variant types. We combined established bioinformatics tools for phenotypic and genomic analysis with our novel algorithms (SVRare, ALTSPLICE and GREEN-DB) to detect and annotate structural, splice site and non-coding variants. RESULTS: Our diagnostic yield was 43/122 cases (35%), although 47/122 cases (39%) were considered solved when considering novel candidate genes with supporting functional data into account. Structural, splice site and deep intronic variants contributed to 20/47 (43%) of our solved cases. Five genes that are novel, or were novel at the time of discovery, were identified, whilst a further three genes are putative novel disease genes with evidence of causality. We identified variants of uncertain significance in a further fourteen candidate genes. The phenotypic spectrum associated with RMND1 was expanded to include polymicrogyria. Two patients with secondary findings in FBN1 and KCNQ1 were confirmed to have previously unidentified Marfan and long QT syndromes, respectively, and were referred for further clinical interventions. Clinical diagnoses were changed in six patients and treatment adjustments made for eight individuals, which for five patients was considered life-saving. CONCLUSIONS: Genome sequencing is increasingly being considered as a first-line genetic test in routine clinical settings and can make a substantial contribution to rapidly identifying a causal aetiology for many patients, shortening their diagnostic odyssey. We have demonstrated that structural, splice site and intronic variants make a significant contribution to diagnostic yield and that comprehensive analysis of the entire genome is essential to maximise the value of clinical genome sequencing
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
BACKGROUND: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25-30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome.METHODS: We undertook WGS on a cohort of 122 unrelated rare disease patients and their relatives (300 genomes) who had been pre-screened by gene panels or arrays. Patients were recruited from a broad spectrum of clinical specialties. We applied a bioinformatics pipeline that would allow comprehensive analysis of all variant types. We combined established bioinformatics tools for phenotypic and genomic analysis with our novel algorithms (SVRare, ALTSPLICE and GREEN-DB) to detect and annotate structural, splice site and non-coding variants.RESULTS: Our diagnostic yield was 43/122 cases (35%), although 47/122 cases (39%) were considered solved when considering novel candidate genes with supporting functional data into account. Structural, splice site and deep intronic variants contributed to 20/47 (43%) of our solved cases. Five genes that are novel, or were novel at the time of discovery, were identified, whilst a further three genes are putative novel disease genes with evidence of causality. We identified variants of uncertain significance in a further fourteen candidate genes. The phenotypic spectrum associated with RMND1 was expanded to include polymicrogyria. Two patients with secondary findings in FBN1 and KCNQ1 were confirmed to have previously unidentified Marfan and long QT syndromes, respectively, and were referred for further clinical interventions. Clinical diagnoses were changed in six patients and treatment adjustments made for eight individuals, which for five patients was considered life-saving.CONCLUSIONS: Genome sequencing is increasingly being considered as a first-line genetic test in routine clinical settings and can make a substantial contribution to rapidly identifying a causal aetiology for many patients, shortening their diagnostic odyssey. We have demonstrated that structural, splice site and intronic variants make a significant contribution to diagnostic yield and that comprehensive analysis of the entire genome is essential to maximise the value of clinical genome sequencing.</p
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
BACKGROUND: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25-30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome. METHODS: We undertook WGS on a cohort of 122 unrelated rare disease patients and their relatives (300 genomes) who had been pre-screened by gene panels or arrays. Patients were recruited from a broad spectrum of clinical specialties. We applied a bioinformatics pipeline that would allow comprehensive analysis of all variant types. We combined established bioinformatics tools for phenotypic and genomic analysis with our novel algorithms (SVRare, ALTSPLICE and GREEN-DB) to detect and annotate structural, splice site and non-coding variants. RESULTS: Our diagnostic yield was 43/122 cases (35%), although 47/122 cases (39%) were considered solved when considering novel candidate genes with supporting functional data into account. Structural, splice site and deep intronic variants contributed to 20/47 (43%) of our solved cases. Five genes that are novel, or were novel at the time of discovery, were identified, whilst a further three genes are putative novel disease genes with evidence of causality. We identified variants of uncertain significance in a further fourteen candidate genes. The phenotypic spectrum associated with RMND1 was expanded to include polymicrogyria. Two patients with secondary findings in FBN1 and KCNQ1 were confirmed to have previously unidentified Marfan and long QT syndromes, respectively, and were referred for further clinical interventions. Clinical diagnoses were changed in six patients and treatment adjustments made for eight individuals, which for five patients was considered life-saving. CONCLUSIONS: Genome sequencing is increasingly being considered as a first-line genetic test in routine clinical settings and can make a substantial contribution to rapidly identifying a causal aetiology for many patients, shortening their diagnostic odyssey. We have demonstrated that structural, splice site and intronic variants make a significant contribution to diagnostic yield and that comprehensive analysis of the entire genome is essential to maximise the value of clinical genome sequencing
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