| 1. |
- Fresard, Laure, et al.
(författare)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Tidskriftsartikel (refereegranskat)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 2. |
- Aguado, D. S., et al.
(författare)
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The Fifteenth Data Release of the Sloan Digital Sky Surveys : First Release of MaNGA-derived Quantities, Data Visualization Tools, and Stellar Library
- 2019
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Ingår i: Astrophysical Journal Supplement Series. - : Institute of Physics Publishing (IOPP). - 0067-0049 .- 1538-4365. ; 240:2
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Tidskriftsartikel (refereegranskat)abstract
- Twenty years have passed since first light for the Sloan Digital Sky Survey (SDSS). Here, we release data taken by the fourth phase of SDSS (SDSS-IV) across its first three years of operation (2014 July-2017 July). This is the third data release for SDSS-IV, and the 15th from SDSS (Data Release Fifteen; DR15). New data come from MaNGA-we release 4824 data cubes, as well as the first stellar spectra in the MaNGA Stellar Library (MaStar), the first set of survey-supported analysis products (e.g., stellar and gas kinematics, emission-line and other maps) from the MaNGA Data Analysis Pipeline, and a new data visualization and access tool we call "Marvin." The next data release, DR16, will include new data from both APOGEE-2 and eBOSS; those surveys release no new data here, but we document updates and corrections to their data processing pipelines. The release is cumulative; it also includes the most recent reductions and calibrations of all data taken by SDSS since first light. In this paper, we describe the location and format of the data and tools and cite technical references describing how it was obtained and processed. The SDSS website (www.sdss.org) has also been updated, providing links to data downloads, tutorials, and examples of data use. Although SDSS-IV will continue to collect astronomical data until 2020, and will be followed by SDSS-V (2020-2025), we end this paper by describing plans to ensure the sustainability of the SDSS data archive for many years beyond the collection of data.
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| 3. |
- Manzano-Nunez, Ramiro, et al.
(författare)
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A meta-analysis of the incidence of complications associated with groin access after the use of resuscitative endovascular balloon occlusion of the aorta in trauma patients.
- 2018
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Ingår i: Journal of Trauma and Acute Care Surgery. - : Lippincott Williams & Wilkins. - 2163-0755 .- 2163-0763. ; 85:3, s. 626-634
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Forskningsöversikt (refereegranskat)abstract
- BACKGROUND: Serious complications related to groin access have been reported with the use of resuscitative endovascular balloon occlusion of the aorta (REBOA). We performed a systematic review and meta-analysis to estimate the incidence of complications related to groin access from the use of REBOA in adult trauma patients.METHODS: We identified articles in MEDLINE and EMBASE. We reviewed all studies that involved adult trauma patients that underwent the placement of a REBOA and included only those that reported the incidence of complications related to groin access. A meta-analysis of proportions was performed RESULTS: We 13 studies with a total of 424 patients. REBOA was inserted most commonly by trauma surgeons or emergency room physicians. Information regarding puncture technique was reported in 12 studies and was available for a total of 414 patients. Percutaneous access and surgical cutdown were performed in 304 (73.4%) and 110 (26.5%) patients respectively. Overall, complications related to groin access occurred in 5.6% of patients (n=24/424). Lower limb amputation was required in 2.1% of patients (9/424), of which three cases (3/424 [0.7%]) were directly related to the vascular puncture from the REBOA insertion. A meta-analysis which used the logit transformation showed a 5% (95% CI 3%-9%) incidence of complications without significant heterogeneity (LR test: χ2 = 0.73, p=0.2, Tau-square=0.2). In a second meta-analysis, we used the Freeman-Turkey double arcsine transformation and found an incidence of complications of 4% (95% CI 2%-7%) with low heterogeneity (I2 = 16.3%).CONCLUSION: We found that the incidence of complications related to groin access was of four to five percent based on a meta-analysis of 13 studies published worldwide. Currently, there are no benchmarks or quality measures as a reference to compare, and thus, further work is required to identify these benchmarks and improve the practice of REBOA in trauma surgery.LEVEL OF EVIDENCE: Systematic Review and Meta-analysis, Level III.
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