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- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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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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| 11. |
- Lopez-Garcia, SC, et al.
(författare)
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Treatment and long-term outcome in primary distal renal tubular acidosis
- 2019
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Ingår i: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. - : Oxford University Press (OUP). - 1460-2385. ; 34:6, s. 981-991
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Tidskriftsartikel (refereegranskat)
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| 15. |
- Sjöland, Olivia, et al.
(författare)
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Associations of Subjective Sleep Quality with Wearable Device-Derived Resting Heart Rate During REM Sleep and Non-REM Sleep in a Cohort of Japanese Office Workers
- 2024
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Ingår i: Nature and Science of Sleep. - 1179-1608. ; 16, s. 867-877
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Tidskriftsartikel (refereegranskat)abstract
- Background: Associations between subjective sleep quality and stage-specific heart rate (HR) may have important clinical relevance when aiming to optimize sleep and overall health. The majority of previously studies have been performed during short periods under laboratory-based conditions. The aim of this study was to investigate the associations of subjective sleep quality with heart rate during REM sleep (HR REMS) and non-REM sleep (HR NREMS) using a wearable device (Fitbit Versa). Methods: This is a secondary analysis of data from the intervention group of a randomized controlled trial (RCT) performed between December 3, 2018, and March 2, 2019, in Tokyo, Japan. The intervention group consisted of 179 Japanese office workers with metabolic syndrome (MetS), Pre-MetS or a high risk of developing MetS. HR was collected with a wearable device and sleep quality was assessed with a mobile application where participants answered The St. Mary’s Hospital Sleep Questionnaire. Both HR and sleep quality was collected daily for a period of 90 days. Associations of between-individual and within-individual sleep quality with HR REMS and HR NREMS were analyzed with multi-level model regression in 3 multivariate models. Results: The cohort consisted of 92.6% men (n=151) with a mean age (± standard deviation) of 44.1 (±7.5) years. A non-significant inverse between-individual association was observed for sleep quality with HR REMS (HR REMS −0.18; 95% CI −0.61, 0.24) and HR NREMS (HR NREMS −0.23; 95% CI −0.66, 0.21), in the final multivariable adjusted models; a statistically significant inverse within-individual association was observed for sleep quality with HR REMS (HR REMS −0.21 95% CI −0.27, −0.15) and HR NREMS (HR NREMS −0.21 95% CI −0.27, −0.14) after final adjustments for covariates. Conclusion: The present study shows a statistically significant within-individual association of subjective sleep quality with HR REMS and HR NREMS. These findings emphasize the importance of considering sleep quality on the individual level. The results may contribute to early detection and prevention of diseases associated with sleep quality which may have important implications on public health given the high prevalence of sleep disturbances in the population.
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- Svensson, Thomas, et al.
(författare)
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Validity and reliability of the Oura Ring Generation 3 (Gen3) with Oura sleep staging algorithm 2.0 (OSSA 2.0) when compared to multi-night ambulatory polysomnography : A validation study of 96 participants and 421,045 epochs
- 2024
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Ingår i: Sleep Medicine. - 1389-9457. ; 115, s. 251-263
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To evaluate the validity and the reliability of the Oura Ring Generation 3 (Gen3) with Oura Sleep Staging Algorithm 2.0 (OSSA 2.0) through multi-night polysomnography (PSG). Participants and methods: Participants were 96 generally healthy Japanese men and women aged between 20 and 70 years contributing with 421,045 30-s epochs. Sleep scoring was performed according to American Academy of Sleep Medicine criteria. Each participant could contribute with a maximum of three polysomnography (PSG) nights. Within-participant means were created for each sleep measure and paired t-tests were used to compare equivalent measures obtained from the PSG and Oura Rings (non-dominant and dominant hand). Agreement between sleep measures were assessed using Bland-Altman plots. Interrater reliability for epoch accuracy was determined by prevalence-adjusted and bias-adjusted kappa (PABAK). Results: The Oura Ring did not significantly differ from PSG for the measures time in bed, total sleep time, sleep onset latency, sleep period time, wake after sleep onset, time spent in light sleep, and time spent in deep sleep. Oura Rings worn on the non-dominant- and dominant-hand underestimated sleep efficiency by 1.1 %–1.5 % and time spent in REM sleep by 4.1–5.6 min. The Oura Ring had a sensitivity of 94.4 %–94.5 %, specificity of 73.0 %–74.6 %, a predictive value for sleep of 95.9 %–96.1 %, a predictive value for wake of 66.6 %–67.0 %, and accuracy of 91.7 %–91.8 %. PABAK was 0.83–0.84 and reliability was 94.8 %. Sleep staging accuracy ranged between 75.5 % (light sleep) and 90.6 % (REM sleep). Conclusions: The Oura Ring Gen3 with OSSA 2.0 shows good agreement with PSG for global sleep measures and time spent in light and deep sleep.
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