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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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2. |
- Hsiao, Tiger Yu-Yang, et al.
(författare)
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JWST Reveals a Possible z similar to 11 Galaxy Merger in Triply Lensed MACS0647-JD
- 2023
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Ingår i: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8205 .- 2041-8213. ; 949:2
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Tidskriftsartikel (refereegranskat)abstract
- MACS0647-JD is a triply lensed z similar to 11 galaxy originally discovered with the Hubble Space Telescope. The three lensed images are magnified by factors of similar to 8, 5, and 2 to AB mag 25.1, 25.6, and 26.6 at 3.5 mu m. The brightest is over a magnitude brighter than other galaxies recently discovered at similar redshifts z > 10 with JWST. Here, we report new JWST imaging that clearly resolves MACS0647-JD as having two components that are either merging galaxies or stellar complexes within a single galaxy. The brighter larger component "A" is intrinsically very blue (ss similar to-2.6 +/- 0.1), likely due to very recent star formation and no dust, and is spatially extended with an effective radius similar to 70 +/- 24 pc. The smaller component "B" (r similar to 20-+ 58 pc) appears redder (ss similar to-2 +/- 0.2), likely because it is older (100-200 Myr) with mild dust extinction (AV similar to 0.1 mag). With an estimated stellar mass ratio of roughly 2:1 and physical projected separation similar to 400 pc, we may be witnessing a galaxy merger 430 million years after the Big Bang. We identify galaxies with similar colors in a high-redshift simulation, finding their star formation histories to be dissimilar, which is also suggested by the spectral energy distribution fitting, suggesting they formed further apart. We also identify a candidate companion galaxy "C" similar to 3 kpc away, likely destined to merge with A and B. Upcoming JWST Near Infrared Spectrograph observations planned for 2023 January will deliver spectroscopic redshifts and more physical properties for these tiny magnified distant galaxies observed in the early universe.
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3. |
- Vanzella, Eros, et al.
(författare)
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JWST/NIRCam Probes Young Star Clusters in the Reionization Era Sunrise Arc
- 2023
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 945:1
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Tidskriftsartikel (refereegranskat)abstract
- Star cluster formation in the early universe and its contribution to reionization remains largely unconstrained to date. Here we present JWST/NIRCam imaging of the most highly magnified galaxy known at z ∼ 6, the Sunrise arc. We identify six young massive star clusters (YMCs) with measured radii spanning from ∼20 down to ∼1 pc (corrected for lensing magnification), estimated stellar masses of ∼106–7 M⊙, and ages of 1–30 Myr based on SED fitting to photometry measured in eight filters extending to rest frame 7000 Å. The resulting stellar mass surface densities are higher than 1000 M⊙ pc−2 (up to a few 105 M⊙ pc−2), and their inferred dynamical ages qualify the majority of these systems as gravitationally bound stellar clusters. The star cluster ages map the progression of star formation along the arc, with two evolved systems (≳10 Myr old) followed by very young clusters. The youngest stellar clusters (<5 Myr) show evidence of prominent Hβ+[O ııı] emission based on photometry with equivalent widths larger than >1000 Å rest frame and are hosted in a 200 pc sized star-forming complex. Such a region dominates the ionizing photon production with a high efficiency log(ξion [Hz erg-1]~25.7 . A significant fraction of the recently formed stellar mass of the galaxy (10%–30%) occurred in these YMCs. We speculate that such sources of ionizing radiation boost the ionizing photon production efficiency, which eventually carves ionized channels that might favor the escape of Lyman continuum radiation. The survival of some of the clusters would make them the progenitors of massive and relatively metal-poor globular clusters in the local universe.
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4. |
- Welch, Brian, et al.
(författare)
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JWST Imaging of Earendel, the Extremely Magnified Star at Redshift z=6.2
- 2022
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Ingår i: Astrophysical Journal Letters. - : Institute of Physics (IOP). - 2041-8205 .- 2041-8213. ; 940
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Tidskriftsartikel (refereegranskat)abstract
- The gravitationally lensed star WHL 0137-LS, nicknamed Earendel, was identified with a photometric redshift z (phot) = 6.2 +/- 0.1 based on images taken with the Hubble Space Telescope. Here we present James Webb Space Telescope (JWST) Near Infrared Camera images of Earendel in eight filters spanning 0.8-5.0 mu m. In these higher-resolution images, Earendel remains a single unresolved point source on the lensing critical curve, increasing the lower limit on the lensing magnification to mu > 4000 and restricting the source plane radius further to r < 0.02 pc, or similar to 4000 au. These new observations strengthen the conclusion that Earendel is best explained by an individual star or multiple star system and support the previous photometric redshift estimate. Fitting grids of stellar spectra to our photometry yields a stellar temperature of T (eff) similar to 13,000-16,000 K, assuming the light is dominated by a single star. The delensed bolometric luminosity in this case ranges from log(L)=5.8 L-theta, which is in the range where one expects luminous blue variable stars. Follow-up observations, including JWST NIRSpec scheduled for late 2022, are needed to further unravel the nature of this object, which presents a unique opportunity to study massive stars in the first billion years of the universe.
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