| 1. |
|
|
| 2. |
- Clark, DW, et al.
(författare)
-
Associations of autozygosity with a broad range of human phenotypes
- 2019
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
-
Tidskriftsartikel (refereegranskat)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
|
|
| 3. |
- Heald, G. H., et al.
(författare)
-
The LOFAR Multifrequency Snapshot Sky Survey (MSSS) : I. Survey description and first results
- 2015
-
Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 582, s. 1-22
-
Tidskriftsartikel (refereegranskat)abstract
- We present the Multifrequency Snapshot Sky Survey (MSSS), the first northern-sky Low Frequency Array (LOFAR) imaging survey. In this introductory paper, we first describe in detail the motivation and design of the survey. Compared to previous radio surveys, MSSS is exceptional due to its intrinsic multifrequency nature providing information about the spectral properties of the detected sources over more than two octaves (from 30 to 160 MHz). The broadband frequency coverage, together with the fast survey speed generated by LOFAR’s multibeaming capabilities, make MSSS the first survey of the sort anticipated to be carried out with the forthcoming Square Kilometre Array (SKA). Two of the sixteen frequency bands included in the survey were chosen to exactly overlap the frequency coverage of large-area Very Large Array (VLA) and Giant Metrewave Radio Telescope (GMRT) surveys at 74 MHz and 151 MHz respectively. The survey performance is illustrated within the MSSS Verification Field (MVF), a region of 100 square degrees centered at (α,δ)J2000 = (15h,69°). The MSSS results from the MVF are compared with previous radio survey catalogs. We assess the flux and astrometric uncertainties in the catalog, as well as the completeness and reliability considering our source finding strategy. We determine the 90% completeness levels within the MVF to be 100 mJy at 135 MHz with 108″ resolution, and 550 mJy at 50 MHz with 166″ resolution. Images and catalogs for the full survey, expected to contain 150 000–200 000 sources, will be released to a public web server. We outline the plans for the ongoing production of the final survey products, and the ultimate public release of images and source catalogs.
|
|
| 4. |
- Sabater, L., et al.
(författare)
-
Evidence-based guidelines for the management of exocrine pancreatic insufficiency after pancreatic surgery
- 2016
-
Ingår i: Annals of Surgery. - 0003-4932 .- 1528-1140. ; 264:6, s. 949-958
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: To provide evidence-based recommendations for the management of exocrine pancreatic insufficiency (EPI) after pancreatic surgery. Background: EPI is a common complication after pancreatic surgery but there is certain confusion about its frequency, optimal methods of diagnosis, and when and how to treat these patients. Methods: Eighteen multidisciplinary reviewers performed a systematic review on 10 predefined questions following the GRADE methodology. Six external expert referees reviewed the retrieved information. Members from Spanish Association of Pancreatology were invited to suggest modifications and voted for the quantification of agreement. Results: These guidelines analyze the definition of EPI after pancreatic surgery, (one question), its frequency after specific techniques and underlying disease (four questions), its clinical consequences (one question), diagnosis (one question), when and how to treat postsurgical EPI (two questions) and its impact on the quality of life (one question). Eleven statements answering those 10 questions were provided: one (9.1%) was rated as a strong recommendation according to GRADE, three (27.3%) as moderate and seven (63.6%) as weak. All statements had strong agreement. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.
|
|
| 5. |
- Shimwell, T. W., et al.
(författare)
-
The LOFAR Two-metre Sky Survey: I. Survey description and preliminary data release
- 2017
-
Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 598, s. Art no A104-
-
Tidskriftsartikel (refereegranskat)abstract
- The LOFAR Two-metre Sky Survey (LoTSS) is a deep 120-168 MHz imaging survey that will eventually cover the entire northern sky. Each of the 3170 pointings will be observed for 8 h, which, at most declinations, is sufficient to produce ~5? resolution images with a sensitivity of ~100 ?Jy/beam and accomplish the main scientific aims of the survey, which are to explore the formation and evolution of massive black holes, galaxies, clusters of galaxies and large-scale structure. Owing to the compact core and long baselines of LOFAR, the images provide excellent sensitivity to both highly extended and compact emission. For legacy value, the data are archived at high spectral and time resolution to facilitate subarcsecond imaging and spectral line studies. In this paper we provide an overview of the LoTSS. We outline the survey strategy, the observational status, the current calibration techniques, a preliminary data release, and the anticipated scientific impact. The preliminary images that we have released were created using a fully automated but direction-independent calibration strategy and are significantly more sensitive than those produced by any existing large-Area low-frequency survey. In excess of 44 000 sources are detected in the images that have a resolution of 25?, typical noise levels of less than 0.5 mJy/beam, and cover an area of over 350 square degrees in the region of the HETDEX Spring Field (right ascension 10h45m00s to 15h30m00s and declination 45°00?00? to 57°00?00?).
|
|
| 6. |
- Wessel, Jennifer, et al.
(författare)
-
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
- 2015
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6
-
Tidskriftsartikel (refereegranskat)abstract
- Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF = 1.4%) with lower FG (beta = -0.09 +/- 0.01 mmol l(-1), P = 3.4 x 10(-12)), T2D risk (OR[95% CI] = 0.86[0.76-0.96], P = 0.010), early insulin secretion (beta = -0.07 +/- 0.035 pmol(insulin) mmol(glucose)(-1), P = 0.048), but higher 2-h glucose (beta = 0.16 +/- 0.05 mmol l(-1), P = 4.3 x 10(-4)). We identify a gene-based association with FG at G6PC2 (p(SKAT) = 6.8 x 10(-6)) driven by four rare protein-coding SNVs (H177Y, Y207S, R283X and S324P). We identify rs651007 (MAF = 20%) in the first intron of ABO at the putative promoter of an antisense lncRNA, associating with higher FG (beta = 0.02 +/- 0.004 mmol l(-1), P = 1.3 x 10(-8)). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility.
|
|
| 7. |
|
|
| 8. |
- Fernandez-Martinez, M., et al.
(författare)
-
Towards a moss sclerophylly continuum: Evolutionary history, water chemistry and climate control traits of hygrophytic mosses
- 2019
-
Ingår i: Functional Ecology. - : Wiley. - 0269-8463 .- 1365-2435. ; 33:12, s. 2273-2289
-
Tidskriftsartikel (refereegranskat)abstract
- Mosses are amongst the oldest and simplest plants, they can be found almost everywhere in the world, and they condition the structure and function of many ecosystems. Their sensitivity to environmental changes makes them very interesting subjects of study in ecology, and understanding them can provide insights into the evolutionary history of plants. However, the study of moss traits and their relationship with their environment is far behind that of vascular plants. We sampled 303 assemblages of aquatic and semi-aquatic (hygrophytic) mosses growing in semi-natural springs distributed around the northeast of the Iberian Peninsula to study how moss traits vary depending on their evolutionary history, climate and water chemistry. To do so, we analysed 30 moss species and 17 traits using phylogenetic comparative methods and an extended RLQ analysis, accounting for spatial and phylogenetic information. We hypothesized that there is a sclerophylly continuum in mosses living across a gradient of high and low water conductivity springs that may mimic sclerophylly in vascular plants that live in stressful environments. Results indicated that life-forms and, especially, morphological traits were well preserved phylogenetically and responsive to water chemistry and climate. That combined with spatial autocorrelation in environmental variables resulted in a clustered distribution of phylogenetically closely related mosses in space. Mosses living in springs with a warm and dry climate that discharge hard water mainly presented species with needle-like leaves, were denser, and had lower water absorption capacity. The opposite was found in cold, humid and soft water springs. Synthesis. Our results suggest that climate and water chemistry are main determinants of traits of hygrophytic mosses and of species distributions. We found evidence of a potential sclerophylly continuum in moss traits, which we hypothesize may be mainly related to physical and physiological constraints produced by water chemistry. Our findings describe moss sclerophylly in a gradient of water conductivity similar to that found in vascular plants with water availability and temperature. Further experimental studies will be required to confirm the observations found in this study. A free Plain Language Summary can be found within the Supporting Information of this article.
|
|
| 9. |
- Huffman, JE, et al.
(författare)
-
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF
- 2015
-
Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 126:11, s. E19-E29
-
Tidskriftsartikel (refereegranskat)abstract
- Twelve independent, novel, low-frequency (n = 2) and rare (n = 10) genetic variants were associated with fibrinogen, FVII, FVIII, or vWF. Nine were within previously associated genes, and 3 novel candidate genes (KCNT1, HID1, and KATNB1) were confined to cohorts of African ancestry.
|
|
| 10. |
|
|
