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- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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- Zhao, Jing Hua, et al.
(författare)
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Body vitamin D content and its relationship with body composition of children in Huairou district of Beijing
- 2010
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Ingår i: Zhonghua liu xing bing xue za zhi. - 0254-6450. ; 31:1, s. 34-38
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To analyze vitamin D concentration and its association with body composition of children in Huairou district of Beijing, to provide evidence for evaluation and improvement of nutritional status of vitamin D in children. METHODS: Totally, 381 children aged 7 - 11 years were recruited in Huairou district of Beijing (40.3 degrees N). Samples of overnight fasting venous blood (drawn between 0630 and 0900) were obtained in late March. Serum 25-hydroxyvitamin D [25(OH)D]concentration was determined by ELISA kits (IDS Ltd, UK). Body composition indices of the whole body, the distal and proximal forearm were measured using dual-energy X-ray absorptiometry (DEXA, Norland, USA). RESULTS: The average serum 25(OH)D concentration of all subjects was (44.4 +/- 12.5) nmol/L. The percentage of vitamin D insufficient [serum 25(OH)D
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