| 1. |
- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 2. |
- Elsik, Christine G., et al.
(författare)
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The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
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Tidskriftsartikel (refereegranskat)abstract
- To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
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| 3. |
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| 4. |
- Jarvis, Erich D., et al.
(författare)
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Whole-genome analyses resolve early branches in the tree of life of modern birds
- 2014
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 346:6215, s. 1320-1331
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Tidskriftsartikel (refereegranskat)abstract
- To better determine the history of modern birds, we performed a genome-scale phylogenetic analysis of 48 species representing all orders of Neoaves using phylogenomic methods created to handle genome-scale data. We recovered a highly resolved tree that confirms previously controversial sister or close relationships. We identified the first divergence in Neoaves, two groups we named Passerea and Columbea, representing independent lineages of diverse and convergently evolved land and water bird species. Among Passerea, we infer the common ancestor of core landbirds to have been an apex predator and confirm independent gains of vocal learning. Among Columbea, we identify pigeons and flamingoes as belonging to sister clades. Even with whole genomes, some of the earliest branches in Neoaves proved challenging to resolve, which was best explained by massive protein-coding sequence convergence and high levels of incomplete lineage sorting that occurred during a rapid radiation after the Cretaceous-Paleogene mass extinction event about 66 million years ago.
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| 5. |
- Zhang, Guojie, et al.
(författare)
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Comparative genomics reveals insights into avian genome evolution and adaptation
- 2014
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 346:6215, s. 1311-1320
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Tidskriftsartikel (refereegranskat)abstract
- Birds are the most species-rich class of tetrapod vertebrates and have wide relevance across many research fields. We explored bird macroevolution using full genomes from 48 avian species representing all major extant clades. The avian genome is principally characterized by its constrained size, which predominantly arose because of lineage-specific erosion of repetitive elements, large segmental deletions, and gene loss. Avian genomes furthermore show a remarkably high degree of evolutionary stasis at the levels of nucleotide sequence, gene synteny, and chromosomal structure. Despite this pattern of conservation, we detected many non-neutral evolutionary changes in protein-coding genes and noncoding regions. These analyses reveal that pan-avian genomic diversity covaries with adaptations to different lifestyles and convergent evolution of traits.
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| 7. |
- Celentano, Valerio, et al.
(författare)
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Standardization of ileoanal J-pouch surgery technique: Quality assessment of minimally invasive ileoanal J-pouch surgery videos
- 2022
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Ingår i: Surgery. - : MOSBY-ELSEVIER. - 0039-6060 .- 1532-7361. ; 172:1, s. 53-59
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Tidskriftsartikel (refereegranskat)abstract
- Background: Ileal pouch anal anastomosis is a complex procedure associated with significant morbidity, with several complications after ileal pouch anal anastomosis surgery leading to pouch failure. The aim of the study is to evaluate the heterogeneity surrounding the technique of ileoanal J-pouch surgery by assessing the safety and quality of published online peer-reviewed surgical videos.Methods: Ileal pouch anal anastomosis videos published on peer-reviewed surgical journals and video channels were edited and anonymized to demonstrate specific steps of the surgical procedure: mobilization and division of the rectum, formation of the ileoanal J-pouch reservoir, anastomosis, and lengthening techniques. The anonymized videos were presented to a group of reviewers with expertise in ileal pouch anal anastomosis blinded to the names and affiliations of the surgeons performing the procedure. Primary outcome was the rate of interobserver variability in the assessment of specific technical steps of the ileal pouch anal anastomosis surgery procedure. Secondary outcome was the appropriateness of the use of surgical videos review as an assessment tool for ileal pouch anal anastomosis surgery, measured as rate of reviewers being unable to answer for poor video quality.Results: In total, 29 video fragments were distributed, and 13 assessors completed a 60-item survey, organized in 7 major domains. The survey completion rate was 93.4%. Out of a total 729 answers, in 23 (3.2%) the reviewers indicated they were unable to comment due to poor video image, and in 48 (6.5%) were unable to comment due to the particular step not being shown in the procedure. The proportion of assessors rating rectal mobilization technically appropriate ranged from 30.7% to 92.3% and from 7.7% to 69.2% for safety. The level of rectal division was considered appropriate in 0 to 53.8% of the videos, whereas the stapling technique used for rectal division was appropriate in 0 to 70% of the videos.Conclusion: Our study assessed published peer-reviewed videos on ileal pouch anal anastomosis surgery and reported heterogeneity in the safety of the demonstrated techniques. Blind assessment of published peer-reviewed ileal pouch anal anastomosis videos reported a high rate of unsafe or inappropriate technique for rectal mobilization and transection in the reviewed videos, with fair interobserver agreement among reviewers. There is a need for consensus on what is considered safe and appropriate in ileal pouch anal anastomosis surgery. Peer review of ileal pouch anal anastomosis surgery videos could facilitate training and accreditation in this complex procedure.(c) 2021 Elsevier Inc. All rights reserved.
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| 9. |
- Field, Christopher B., et al.
(författare)
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Summary for Policymakers
- 2014
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Ingår i: Climate Change 2014: Impacts, Adaptation, and Vulnerability. Part A: Global and SectoralAspects.. - 9781107415379 ; , s. 1-32
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Bokkapitel (refereegranskat)
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| 10. |
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