7,774 research outputs found
Association of MC1R Variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study
No full text<p><b>Background</b> Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process. However, investigation of the associations of both MC1R variants and host phenotypes with melanoma risk has been limited.</p>
<p><b>Methods</b> We included 815 CDKN2A mutation carriers (473 affected, and 342 unaffected, with melanoma) from 186 families from 15 centers in Europe, North America, and Australia who participated in the Melanoma Genetics Consortium. In this family-based study, we assessed the associations of the four most frequent MC1R variants (V60L, V92M, R151C, and R160W) and the number of variants (1, ≥2 variants), alone or jointly with the host phenotypes (hair color, propensity to sunburn, and number of nevi), with melanoma risk in CDKN2A mutation carriers. These associations were estimated and tested using generalized estimating equations. All statistical tests were two-sided.</p>
<p><b>Results</b> Carrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 × 10−6 ≤ P ≤ .0007). A consistent pattern of increase in melanoma risk was also associated with increase in number of MC1R variants. The risk of melanoma associated with at least two MC1R variants was 2.6-fold higher than the risk associated with only one variant (odds ratio = 5.83 [95% confidence interval = 3.60 to 9.46] vs 2.25 [95% confidence interval = 1.44 to 3.52]; Ptrend = 1.86 × 10−8). The joint analysis of MC1R variants and host phenotypes showed statistically significant associations of melanoma risk, together with MC1R variants (.0001 ≤ P ≤ .04), hair color (.006 ≤ P ≤ .06), and number of nevi (6.9 × 10−6 ≤ P ≤ .02).</p>
<p><b>Conclusion</b> Results show that MC1R variants, hair color, and number of nevi were jointly associated with melanoma risk in CDKN2A mutation carriers. This joint association may have important consequences for risk assessments in familial settings.</p>
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)
No full textCDKN2A is the major melanoma susceptibility gene so far identified, but only 40% of three or more case families have identified mutations. A comparison of mutation detection rates was carried out by “blind” exchange of samples across GenoMEL, the Melanoma Genetics Consortium, to establish the false negative detection rates. Denaturing high performance liquid chromatography (DHPLC) screening results from 451 samples were compared to screening data from nine research groups in which the initial mutation screen had been done predominantly by sequencing. Three samples with mutations identified at the local centres were not detected by the DHPLC screen. No additional mutations were detected by DHPLC. Mutation detection across groups within GenoMEL is carried out to a consistently high standard. The relatively low rate of CDKN2A mutation detection is not due to failure to detect mutations and implies the existence of other high penetrance melanoma susceptibility genes
SHui open data research platform
No full textData collected and revised by individual instutions of the Shui-Consortium. Publication by the EU-China Consortium SHui.For each data-file, the author (institution) of the file is given as “operator”.-- At project end, June 30th, 2022.-- For each data-file, the author/data owner for citation is given as “operator” and “contact”.-- Plot data as .csv; catchment data ad libitum.Spatial situation data: Plot data and catchment data available; country, latitude, and longitude coordinates given.-- Temporal situation data: Long-term and single-season data available. Start and end date for each data file given.CC BY-SA. No embargo. The release on the Shui download site and CSIC repository implies expiration of any embargo delivered by the data owner.Project Co-ordinators: Dr. Jose Alfonso Gómez Calero (Instituto de Agricultura Sostenible (IAS-CISC), Dr. Weifeng Xu (Fujian Agriculture and Forest University, FAFU).This data set contains data from the SHui open-data platform for sharing long-term agricultural experiments aimed to optimizing yield and soil and water. Data and additional material are available under https://shui.boku.ac.at/shui/public/startAlphanumeric data measured at hydrologic and agronomical experiments (e.g., plant development, soil properties, hydrology, erosion, management).Further information on the data, project, partners, and publications under https://www.shui-eu.org/EU-China Consortium SHui: European Union Project 773903 and Chinese MOST.Peer reviewe
Enrichment and characterization of a bacteria consortium capable of heterotrophic nitrification and aerobic denitrification at low temperature
No full textNitrogen removal in wastewater treatment plants is usually severely inhibited under cold temperature. The present study proposes bioaugmentation using psychrotolerant heterotrophic nitrification-aerobic denitrification consortium to enhance nitrogen removal at low temperature. A functional consortium has been successfully enriched by stepped increase in DO concentration. Using this consortium, the specific removal rates of ammonia and nitrate at 10 degrees C reached as high as 3.1 mg N/(g SS h) and 9.6 mg N/ (g SS h), respectively. PCR-DGGE and clone library analysis both indicated a significant reduction in bacterial diversity during enrichment. Phylogenetic analysis based on nearly full-length 16S rRNA genes showed that Alphaproteobacteria. Deltaproteobacteria and particularly Bacteroidetes declined while Gammaproteobacteria (all clustered into Pseudomonas sp.) and Betaproteobacteria (mainly Rhodoferax ferrireducens) became dominant in the enriched consortium. It is likely that Pseudomonas spp. played a major role in nitrification and denitrification, while R. ferrireducens and its relatives utilized nitrate as both electron acceptor and nitrogen source. Crown Copyright (C) 2012 Published by Elsevier Ltd. All rights reserved.</p
Arabic Treebank : Part 2 v 3.1
No full textArabic Treebank: Part 2 (ATB2) v 3.1 , Linguistic Data Consortium (LDC) catalog number LDC2011T09 and isbn 1-58563-590-1, was developed at LDC. It consists of 501 newswire stories from Ummah Press with part-of-speech (POS), morphology, gloss and syntactic treebank annotation in accordance with the Penn Arabic Treebank (PATB) Guidelines developed in 2008 and 2009
Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes (Nature Genetics, (2018), 50, 4, (524-537), 10.1038/s41588-018-0058-3)
No full textIn the HTML version of this article initially published, the author groups ‘AFGen Consortium’, ‘Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium’, ‘International Genomics of Blood Pressure (iGEN-BP) Consortium’, ‘INVENT Consortium’, ‘STARNET’, ‘BioBank Japan Cooperative Hospital Group’, ‘COMPASS Consortium’, ‘EPIC-CVD Consortium’, ‘EPIC-InterAct Consortium’, ‘International Stroke Genetics Consortium (ISGC)’, ‘METASTROKE Consortium’, ‘Neurology Working Group of the CHARGE Consortium’, ‘NINDS Stroke Genetics Network (SiGN)’, ‘UK Young Lacunar DNA Study’ and ‘MEGASTROKE Consortium’ appeared at the end of the author list but should have appeared earlier in the list. In addition, the author group ‘MEGASTROKE Consortium’ was duplicated, and its members were not displayed in the ‘Author information’ section. The errors have been corrected in the HTML version of the article
High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL
No full textGenoMEL, comprising major familial melanoma research groups from North America, Europe, Asia, and Australia has created the largest familial melanoma sample yet available to characterize mutations in the high-risk melanoma susceptibility genes CDKN2A/alternate reading frames (ARF), which encodes p16 and p14ARF, and CDK4 and to evaluate their relationship with pancreatic cancer (PC), neural system tumors (NST), and uveal melanoma (UM). This study included 466 families (2,137 patients) with at least three melanoma patients from 17 GenoMEL centers. Overall, 41% (n = 190) of families had mutations; most involved p16 (n = 178). Mutations in CDK4 (n = 5) and ARF (n = 7) occurred at similar frequencies (2-3%). There were striking differences in mutations across geographic locales. The proportion of families with the most frequent founder mutation(s) of each locale differed significantly across the seven regions (P = 0.0009). Single founder CDKN2A mutations were predominant in Sweden (p.R112_L113insR, 92% of family's mutations) and the Netherlands (c.225_243del19, 90% of family's mutations). France, Spain, and Italy had the same most frequent mutation (p.G101W). Similarly, Australia and United Kingdom had the same most common mutations (p.M53I, cdVS2-105A > G, p.R24P, and p.L32P). As reported previously, there was a strong association between PC and CDKN2A mutations (P < 0.0001). This relationship differed by mutation. In contrast, there was little evidence for an association between CDKN2A mutations and NST (P = 0.52) or UM (P = 0.25). There was a marginally significant association between NST and ARF (P = 0.05). However, this particular evaluation had low power and requires confirmation. This GenoMEL study provides the most extensive characterization of mutations in high-risk melanoma susceptibility genes in families with three or more melanoma patients yet available
Author Correction: Expanded encyclopaedias of DNA elements in the human and mouse genomes
No full textOnline Correction for: https://doi.org/10.1038/s41586-020-2493-4 | Erratum for https://bura.brunel.ac.uk/handle/2438/21299In the version of this article initially published, two members of the ENCODE Project Consortium were missing from the author list. Rizi Ai (Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA) and Shantao Li (Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA) are now included in the author list. These errors have been corrected in the online version of the article : 'Expanded encyclopaedias of DNA elements in the human and mouse genomes'.https://www.nature.com/articles/s41586-021-04226-3https://www.nature.com/articles/s41586-021-04226-
Author Correction: Perspectives on ENCODE (Nature, (2020), 583, 7818, (693-698), 10.1038/s41586-020-2449-8)
No full textThe Original Article (https://doi.org/10.1038/s41586-020-2449-8) was published on 29 July 2020.Copyright © The Authors 2022. In this Article, the authors Rizi Ai (Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA) and Shantao Li (Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA) were mistakenly omitted from the ENCODE Project Consortium author list. The original Article has been corrected online
Comparing consortial repositories: a model-driven analysis
No full textThis study aims to provide a comparative assessment of different repository consortia as a reference to inform future work in the area. A review of the literature was used to identify repository consortia, and their features were compared. Three models of consortial repositories were derived from this comparison, based on their structure and aims. The consortial models were based around either: creating a shared repository for the members, developing a repository software platform or creating a metadata harvesting service to aggregate content. Using case studies of each type of repository consortium, each model was assessed in terms of its particular strengths and weaknesses. These strengths were then compared across the models to enable those considering a consortial repository project to assess which model, or combination of models, would best address their needs and to aid in project planning
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