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| 2. |
- Tabassum, R, et al.
(författare)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Tidskriftsartikel (refereegranskat)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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| 3. |
- Lee, James J, et al.
(författare)
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Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
- 2018
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 50:8, s. 1112-1121
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Tidskriftsartikel (refereegranskat)abstract
- Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1million individuals and identify 1,271independent genome-wide-significant SNPs. For the SNPs taken together, we found evidence of heterogeneous effects across environments. The SNPs implicate genes involved in brain-development processes and neuron-to-neuron communication. In a separate analysis of the X chromosome, we identify 10independent genome-wide-significant SNPs and estimate a SNP heritability of around 0.3% in both men and women, consistent with partial dosage compensation. A joint (multi-phenotype) analysis of educational attainment and three related cognitive phenotypes generates polygenic scores that explain 11-13% of the variance in educational attainment and 7-10% of the variance in cognitive performance. This prediction accuracy substantially increases the utility of polygenic scores as tools in research.
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| 4. |
- Agrell, Erik, 1965, et al.
(författare)
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Roadmap of optical communications
- 2016
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Ingår i: Journal of Optics. - : IOP Publishing. - 2040-8978 .- 2040-8986. ; 18:6
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Tidskriftsartikel (refereegranskat)abstract
- Lightwave communications is a necessity for the information age. Optical links provide enormous bandwidth, and the optical fiber is the only medium that can meet the modern society's needs for transporting massive amounts of data over long distances. Applications range from global high-capacity networks, which constitute the backbone of the internet, to the massively parallel interconnects that provide data connectivity inside datacenters and supercomputers. Optical communications is a diverse and rapidly changing field, where experts in photonics, communications, electronics, and signal processing work side by side to meet the ever-increasing demands for higher capacity, lower cost, and lower energy consumption, while adapting the system design to novel services and technologies. Due to the interdisciplinary nature of this rich research field, Journal of Optics has invited 16 researchers, each a world-leading expert in their respective subfields, to contribute a section to this invited review article, summarizing their views on state-of-the-art and future developments in optical communications.
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| 5. |
- Bowers, Robert M., et al.
(författare)
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Minimum information about a single amplified genome (MISAG) and a metagenome-assembled genome (MIMAG) of bacteria and archaea
- 2017
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Ingår i: Nature Biotechnology. - : NATURE PUBLISHING GROUP. - 1087-0156 .- 1546-1696. ; 35:8, s. 725-731
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Tidskriftsartikel (refereegranskat)abstract
- We present two standards developed by the Genomic Standards Consortium (GSC) for reporting bacterial and archaeal genome sequences. Both are extensions of the Minimum Information about Any (x) Sequence (MIxS). The standards are the Minimum Information about a Single Amplified Genome (MISAG) and the Minimum Information about a Metagenome-Assembled Genome (MIMAG), including, but not limited to, assembly quality, and estimates of genome completeness and contamination. These standards can be used in combination with other GSC checklists, including the Minimum Information about a Genome Sequence (MIGS), Minimum Information about a Metagenomic Sequence (MIMS), and Minimum Information about a Marker Gene Sequence (MIMARKS). Community-wide adoption of MISAG and MIMAG will facilitate more robust comparative genomic analyses of bacterial and archaeal diversity.
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| 6. |
- Corazzini, Kirsten N., et al.
(författare)
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Toward Common Data Elements for International Research in Long-term Care Homes : Advancing Person-Centered Care
- 2019
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Ingår i: Journal of the American Medical Directors Association. - : Elsevier. - 1525-8610 .- 1538-9375. ; 20:5, s. 598-603
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Tidskriftsartikel (refereegranskat)abstract
- To support person-centered, residential long-term care internationally, a consortium of researchers in medicine, nursing, behavioral, and social sciences from 21 geographically and economically diverse countries have launched the WE-THRIVE consortium to develop a common data infrastructure. WE-THRIVE aims to identify measurement domains that are internationally relevant, including in low-, middle-, and high-income countries, prioritize concepts to operationalize domains, and specify a set of data elements to measure concepts that can be used across studies for data sharing and comparisons. This article reports findings from consortium meetings at the 2016 meeting of the Gerontological Society of America and the 2017 meeting of the International Association of Gerontology and Geriatrics, to identify domains and prioritize concepts, following best practices to identify common data elements (CDEs) that were developed through the US National Institutes of Health/National Institute of Nursing Research's CDEs initiative. Four domains were identified, including organizational context, workforce and staffing, person-centered care, and care outcomes. Using a nominal group process, WE-THRIVE prioritized 21 concepts across the 4 domains. Several concepts showed similarity to existing measurement structures, whereas others differed. Conceptual similarity (convergence; eg, concepts in the care outcomes domain of functional level and harm-free care) provides further support of the critical foundational work in LTC measurement endorsed and implemented by regulatory bodies. Different concepts (divergence; eg, concepts in the person-centered care domain of knowing the person and what matters most to the person) highlights current gaps in measurement efforts and is consistent with WE-THRIVE's focus on supporting resilience and thriving for residents, family, and staff. In alignment with the World Health Organization's call for comparative measurement work for health systems change, WE-THRIVE's work to date highlights the benefits of engaging with diverse LTC researchers, including those in low-, middle-, and high-income countries, to develop a measurement infrastructure that integrates the aspirations of person-centered LTC.
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| 7. |
- Marao, Heloisa F., et al.
(författare)
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Cortical and Trabecular Bone Healing Patterns and Quantification for Three Different Dental Implant Systems
- 2017
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Ingår i: International Journal of Oral & Maxillofacial Implants. - : Quintessence. - 0882-2786 .- 1942-4434. ; 32:3, s. 585-592
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The present study hypothesized that different bone healing patterns through initial stages of osseointegration would be observed when three distinct commercially available implant systems (Nobel Groovy, Implacil, and Zimmer TSV) were used, leading to significant variations in histometric levels of total bone and new bone formation during the osseointegration process. Materials and Methods: A total of 48 implants were placed bilaterally on the tibias of eight beagle dogs and allowed to heal for 2 and 6 weeks. Following euthanasia, nondecalcified specimens were processed for morphologic and histometric evaluation. Bone-to-implant contact (BIC) and new bone area fraction occupancy (BAFO) analyses for native and new bone were performed along the whole perimeter of each implant and separately for the cortical and trabecular bone regions. Results: Morphologic evaluation of cortical bone presented different healing patterns and osseointegration levels for different implant systems as time elapsed in vivo. Interfacial remodeling was the chief healing pattern in Zimmer implants, while a combination of interfacial remodeling and healing chambers was observed in Nobel and Implacil implants. When trabecular bone was evaluated, similar bone healing patterns were observed between systems despite different levels of osseointegration observed as a function of implantation time, implant system, and native and/or new bone BIC and BAFO. Conclusion: Different implant systems led to different healing patterns during early stages of osseointegration. Such variation in pattern was more noticeable in the cortical regions compared to the trabecular regions. The variation in bone healing pattern did significantly influence overall indicators of native and new BIC and BAFO during the osseointegration process. The postulated hypothesis was accepted.
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| 8. |
- Sun, Yanting, et al.
(författare)
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Optical and structural properties of sulfur-doped ELOG InP on Si
- 2015
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Ingår i: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 117:21
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Tidskriftsartikel (refereegranskat)abstract
- Optical and structural properties of sulfur-doped epitaxial lateral overgrowth (ELOG) InP grown from nano-sized openings on Si are studied by room-temperature cathodoluminescence and cross-sectional transmission electron microscopy (XTEM). The dependence of luminescence intensity on opening orientation and dimension is reported. Impurity enhanced luminescence can be affected by the facet planes bounding the ELOG layer. Dark line defects formed along the [011] direction are identified as the facet planes intersected by the stacking faults in the ELOG layer. XTEM imaging in different diffraction conditions reveals that stacking faults in the seed InP layer can circumvent the SiO2 mask during ELOG and extend to the laterally grown layer over the mask. A model for Suzuki effect enhanced stacking fault propagation over the mask in sulfur-doped ELOG InP is constructed and in-situ thermal annealing process is proposed to eliminate the seeding stacking faults.
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| 9. |
- Svoboda, B. E., et al.
(författare)
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THE BOLOCAM GALACTIC PLANE SURVEY. XIV. PHYSICAL PROPERTIES of MASSIVE STARLESS and STAR-FORMING CLUMPS
- 2016
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 822:2
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Tidskriftsartikel (refereegranskat)abstract
- We sort 4683 molecular clouds between 10° < ℓ < 65° from the Bolocam Galactic Plane Survey based on observational diagnostics of star formation activity: compact 70 μm sources, mid-IR color-selected YSOs, H2O and CH3OH masers, and UCH ii regions. We also present a combined NH3-derived gas kinetic temperature and H2O maser catalog for 1788 clumps from our own GBT 100 m observations and from the literature. We identify a subsample of 2223 (47.5%) starless clump candidates (SCCs), the largest and most robust sample identified from a blind survey to date. Distributions of flux density, flux concentration, solid angle, kinetic temperature, column density, radius, and mass show strong (>1 dex) progressions when sorted by star formation indicator. The median SCC is marginally subvirial (α ∼ 0.7) with >75% of clumps with known distance being gravitationally bound (α < 2). These samples show a statistically significant increase in the median clump mass of ΔM ∼ 170-370 M o from the starless candidates to clumps associated with protostars. This trend could be due to (i) mass growth of the clumps at M o Myr-1 for an average freefall 0.8 Myr timescale, (ii) a systematic factor of two increase in dust opacity from starless to protostellar phases, and/or (iii) a variation in the ratio of starless to protostellar clump lifetime that scales as ∼M -0.4. By comparing to the observed number of CH3OH maser containing clumps, we estimate the phase lifetime of massive (M > 103 M o) starless clumps to be 0.37 ± 0.08 Myr (M/103 M o)-1; the majority (M < 450 M o) have phase lifetimes longer than their average freefall time. © 2016. The American Astronomical Society. All rights reserved.
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| 10. |
- Waszak, S. M., et al.
(författare)
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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
- 2018
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Ingår i: Lancet Oncology. - : Elsevier BV. - 1470-2045. ; 19:6, s. 785-798
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Tidskriftsartikel (refereegranskat)abstract
- Background Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. Methods In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma. Findings We included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105 sequenced controls from ExAC and identified APC, BRCA2, PALB2, PTCH1, SUFU, and TP53 as consensus medulloblastoma predisposition genes according to our rare variant burden analysis and estimated that germline mutations accounted for 6% of medulloblastoma diagnoses in the retrospective cohort. The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for patients in the MBSHH subgroup (20% in the retrospective cohort). These estimates were replicated in the prospective clinical cohort (germline mutations accounted for 5% of medulloblastoma diagnoses, with the highest prevalence [14%] in the MBSHH subgroup). Patients with germline APC mutations developed MBWNT and accounted for most (five [71%] of seven) cases of MBWNT that had no somatic CTNNB1 exon 3 mutations. Patients with germline mutations in SUFU and PTCH1 mostly developed infant MBSHH. Germline TP53 mutations presented only in childhood patients in the MBSHH subgroup and explained more than half (eight [57%] of 14) of all chromothripsis events in this subgroup. Germline mutations in PALB2 and BRCA2 were observed across the MBSHH, MBGroup3, and MBGroup4 molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 4069) and 5-year overall survival was 65% (95% CI 5281); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes. Interpretation Genetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics. Copyright (c) 2018 The Author(s). Published by Elsevier Ltd.
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