SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Yan Max) "

Sökning: WFRF:(Yan Max)

  • Resultat 1-10 av 17
  • [1]2Nästa
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Brownstein, Catherine A., et al. (författare)
  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
  • 2014
  • Ingår i: Genome Biology. - 1465-6906 .- 1474-760X. ; 15:3, s. R53
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.</p>
  •  
2.
  • Brownstein, Catherine A., et al. (författare)
  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
  • 2014
  • Ingår i: Genome Biology. - 1465-6906 .- 1474-760X. ; 15:3
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.</p>
  •  
3.
  • Mulligan, Anna Marie, et al. (författare)
  • Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
  • 2011
  • Ingår i: Breast Cancer Research. - BioMed Central (BMC). - 1465-5411. ; 13:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. Methods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. Results: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. Conclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.
4.
  • Fischer, Hubertus, et al. (författare)
  • Palaeoclimate constraints on the impact of 2 °C anthropogenic warming and beyond
  • 2018
  • Ingår i: Nature Geoscience. - Nature Publishing Group. - 1752-0894. ; 11:7, s. 474-485
  • Tidskriftsartikel (refereegranskat)abstract
    • Over the past 3.5 million years, there have been several intervals when climate conditions were warmer than during the pre-industrial Holocene. Although past intervals of warming were forced differently than future anthropogenic change, such periods can provide insights into potential future climate impacts and ecosystem feedbacks, especially over centennial-to-millennial timescales that are often not covered by climate model simulations. Our observation-based synthesis of the understanding of past intervals with temperatures within the range of projected future warming suggests that there is a low risk of runaway greenhouse gas feedbacks for global warming of no more than 2 °C. However, substantial regional environmental impacts can occur. A global average warming of 1–2 °C with strong polar amplification has, in the past, been accompanied by significant shifts in climate zones and the spatial distribution of land and ocean ecosystems. Sustained warming at this level has also led to substantial reductions of the Greenland and Antarctic ice sheets, with sea-level increases of at least several metres on millennial timescales. Comparison of palaeo observations with climate model results suggests that, due to the lack of certain feedback processes, model-based climate projections may underestimate long-term warming in response to future radiative forcing by as much as a factor of two, and thus may also underestimate centennial-to-millennial-scale sea-level rise.
  •  
5.
  • Li, Yuanyuan, et al. (författare)
  • Towards centimeter thick transparent wood through interface manipulation
  • 2018
  • Ingår i: Journal of Materials Chemistry A. - Royal Society of Chemistry. - 2050-7488 .- 2050-7496. ; 6:3, s. 1094-1101
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Transparent wood is an attractive structural material for energy-saving buildings due to its high optical transmittance, good thermal insulation, and high toughness. However, thick highly transparent wood is challenging to realize. In the current work, highly transparent wood (1.5 mm) with a transmittance of 92%, close to that of pure PMMA (95%), is demonstrated. The high transmittance was realized by interface manipulation through acetylation of wood template. Both experiments and electromagnetic modeling support that the improved transmittance is mainly due to elimination of interface debonding gap. By applying this method, a centimeter-thick transparent wood structure was obtained. The transparent wood could be used as a substrate for an optically tunable window by laminating a polymer dispersed liquid crystal (PDLC) film on top. The techniques demonstrated are a step towards the replacement of glass in smart windows and smart buildings.</p>
  •  
6.
  • Lobov, Gleb S., et al. (författare)
  • Electric field induced optical anisotropy of P3HT nanofibers in a liquid solution
  • 2015
  • Ingår i: Optical Materials Express. - Optical Society of America. - 2159-3930 .- 2159-3930. ; 5:11, s. 2642-2647
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>The nanofiber morphology of regioregular Poly-3- hexylthiophene (P3HT) is a 1D crystalline structure organized by π - π stacking of the backbone chains. In this study, we report the impact of electric field on the orientation and optical properties of P3HT nanofibers dispersed in liquid solution. We demonstrate that alternating electric field aligns nanofibers, whereas static electric field forces them to migrate towards the cathode. The alignment of nanofibers introduces anisotropic optical properties, which can be dynamically manipulated until the solvent has evaporated. Time resolved spectroscopic measurements revealed that the electro-optical response time decreases significantly with the magnitude of applied electric field. Thus, for electric field 1.3 V ·μm-1 the response time was measured as low as 20 ms, while for 0.65 V ·μm-1 it was 110-150 ms. Observed phenomenon is the first mention of P3HT supramolecules associated with electrooptical effect. Proposed method provides real time control over the orientation of nanofibers, which is a starting point for a novel practical implementation. With further development P3HT nanofibers can be used individually as an anisotropic solution or as an active component in a guest-host system.</p>
  •  
7.
  • Lobov, Gleb S., et al. (författare)
  • Electro-optical response of P3HT nanofibers in liquid solution
  • 2015
  • Ingår i: Asia Communications and Photonics Conference 2015. - Optical Society of America. - 9781943580064
  • Konferensbidrag (refereegranskat)abstract
    • <p>AC electric poling introduces in P3HT nanofibers anisotropic electro-optical response and birefringence. Along with birefringence, such material exhibits strong amplitude modulation which makes it more efficient alternative to liquid crystals.</p>
  •  
8.
  • Lu, Longhui, et al. (författare)
  • Subwavelength adiabatic multimode Y-junctions
  • 2019
  • Ingår i: Optics Letters. - OPTICAL SOC AMER. - 0146-9592 .- 1539-4794. ; 44:19, s. 4729-4732
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Adiabatic multimode Y-junctions are extensively used for the design of multimode silicon photonics devices due to their straightforward principle in achieving mode splitting and manipulation. However, experimentally, the limited feature size achievable by lithography can greatly deteriorate the adiabatic branching property and result in large excess loss and crosstalk. Here, we propose a branch structure consisting of a circular-hole-based chirped subwavelength slot. By optimizing the holes' radii and positions under our fabrication constraint, we designed and experimentally demonstrated both symmetric and asymmetric approximately adiabatic four-mode Y-junctions with excellent performance close to ideal Y-junctions over a broad wavelength span. Such junctions are compact, CMOS-compatible, exhibit a relatively large fabrication tolerance, and could be extended for more modes; hence they can be potentially deployed for mode-division multiplexing silicon-photonic systems.</p>
  •  
9.
  • Manning, Alisa K., et al. (författare)
  • A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance
  • 2012
  • Ingår i: Nature Genetics. - Nature Publishing Group. - 1546-1718. ; 44:6, s. 81-659
  • Tidskriftsartikel (refereegranskat)abstract
    • Recent genome-wide association studies have described many loci implicated in type 2 diabetes (T2D) pathophysiology and beta-cell dysfunction but have contributed little to the understanding of the genetic basis of insulin resistance. We hypothesized that genes implicated in insulin resistance pathways might be uncovered by accounting for differences in body mass index (BMI) and potential interactions between BMI and genetic variants. We applied a joint meta-analysis approach to test associations with fasting insulin and glucose on a genome-wide scale. We present six previously unknown loci associated with fasting insulin at P < 5 x 10(-8) in combined discovery and follow-up analyses of 52 studies comprising up to 96,496 non-diabetic individuals. Risk variants were associated with higher triglyceride and lower high-density lipoprotein (HDL) cholesterol levels, suggesting a role for these loci in insulin resistance pathways. The discovery of these loci will aid further characterization of the role of insulin resistance in T2D pathophysiology.
  •  
10.
  • Manning, Alisa K., et al. (författare)
  • A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance
  • 2012
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 44:6, s. 659-669
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Recent genome-wide association studies have described many loci implicated in type 2 diabetes (T2D) pathophysiology and beta-cell dysfunction but have contributed little to the understanding of the genetic basis of insulin resistance. We hypothesized that genes implicated in insulin resistance pathways might be uncovered by accounting for differences in body mass index (BMI) and potential interactions between BMI and genetic variants. We applied a joint meta-analysis approach to test associations with fasting insulin and glucose on a genome-wide scale. We present six previously unknown loci associated with fasting insulin at P &lt; 5 x 10(-8) in combined discovery and follow-up analyses of 52 studies comprising up to 96,496 non-diabetic individuals. Risk variants were associated with higher triglyceride and lower high-density lipoprotein (HDL) cholesterol levels, suggesting a role for these loci in insulin resistance pathways. The discovery of these loci will aid further characterization of the role of insulin resistance in T2D pathophysiology.</p>
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 17
  • [1]2Nästa
Åtkomst
fritt online (2)
Typ av publikation
tidskriftsartikel (12)
konferensbidrag (5)
Typ av innehåll
refereegranskat (17)
övrigt vetenskapligt (5)
Författare/redaktör
Popov, Sergei, (5)
Lind, Lars, (3)
Lobbens, Stéphane, (3)
Froguel, Philippe, (3)
Lyssenko, Valeriya, (3)
Groop, Leif, (3)
visa fler...
Hansson, Ola, (3)
Lannfelt, Lars, (3)
Trompet, Stella (3)
Amin, Najaf (3)
Blangero, John (3)
Boomsma, Dorret I. (3)
Ferrucci, Luigi (3)
Ford, Ian (3)
Gudnason, Vilmundur (3)
Hofman, Albert (3)
Hottenga, Jouke-Jan (3)
Jukema, J. Wouter (3)
Rotter, Jerome I. (3)
Uitterlinden, Andre ... (3)
Van Duijn, Cornelia ... (3)
Launer, Lenore J. (3)
Deloukas, Panos (3)
Wareham, Nicholas J (3)
Clarke, Robert, (3)
Stancáková, Alena, (3)
Kuusisto, Johanna, (3)
Laakso, Markku, (3)
McCarthy, Mark I (3)
Ladenvall, Claes, (3)
Shungin, Dmitry, (3)
Langenberg, Claudia (3)
Magnusson, Patrik K ... (3)
Pedersen, Nancy L (3)
Boehnke, Michael (3)
Hamsten, Anders (3)
Mohlke, Karen L (3)
Scott, Robert A (3)
Ingelsson, Erik (3)
Salomaa, Veikko (3)
Willemsen, Gonneke (3)
Oostra, Ben A. (3)
Kaprio, Jaakko (3)
Jarvelin, Marjo-Riit ... (3)
de Faire, Ulf (3)
Barroso, Inês (3)
Peltonen, Leena (3)
Jackson, Anne U. (3)
Wheeler, Eleanor (3)
Smith, Albert Vernon (3)
visa färre...
Lärosäte
Kungliga Tekniska Högskolan (6)
RISE (4)
Lunds universitet (3)
Karolinska Institutet (2)
Göteborgs universitet (1)
Umeå universitet (1)
visa fler...
Uppsala universitet (1)
Stockholms universitet (1)
Linköpings universitet (1)
visa färre...
Språk
Engelska (17)
Forskningsämne (UKÄ/SCB)
Naturvetenskap (8)
Medicin och hälsovetenskap (5)
Teknik (4)
Samhällsvetenskap (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy