| 1. |
|
|
| 2. |
- Chen, Hongjie, et al.
(författare)
-
Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals
- 2021
-
Ingår i: Human Genetics and Genomics Advances. - : Cell Press. - 2666-2477. ; 2:3
-
Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWASs) have identified thousands of cancer risk loci revealing many risk regions shared across multiple cancers. Characterizing the cross-cancer shared genetic basis can increase our understanding of global mechanisms of cancer development. In this study, we collected GWAS summary statistics based on up to 375,468 cancer cases and 530,521 controls for fourteen types of cancer, including breast (overall, estrogen receptor [ER]-positive, and ER-negative), colorectal, endometrial, esophageal, glioma, head/neck, lung, melanoma, ovarian, pancreatic, prostate, and renal cancer, to characterize the shared genetic basis of cancer risk. We identified thirteen pairs of cancers with statistically significant local genetic correlations across eight distinct genomic regions. Specifically, the 5p15.33 region, harboring the TERT and CLPTM1L genes, showed statistically significant local genetic correlations for multiple cancer pairs. We conducted a cross-cancer fine-mapping of the 5p15.33 region based on eight cancers that showed genome-wide significant associations in this region (ER-negative breast, colorectal, glioma, lung, melanoma, ovarian, pancreatic, and prostate cancer). We used an iterative analysis pipeline implementing a subset-based meta-analysis approach based on cancer-specific conditional analyses and identified ten independent cross-cancer associations within this region. For each signal, we conducted cross-cancer fine-mapping to prioritize the most plausible causal variants. Our findings provide a more in-depth understanding of the shared inherited basis across human cancers and expand our knowledge of the 5p15.33 region in carcinogenesis.
|
|
| 3. |
- Hillier, Ladeana W, et al.
(författare)
-
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
- 2004
-
Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
-
Tidskriftsartikel (refereegranskat)abstract
- We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
|
|
| 4. |
- Løkkegaard, Anja, et al.
(författare)
-
Greenland and Canadian Arctic ice temperature profiles database
- 2023
-
Ingår i: The Cryosphere. - : Copernicus Publications. - 1994-0416 .- 1994-0424. ; 17:9, s. 3829-3845
-
Tidskriftsartikel (refereegranskat)abstract
- Here, we present a compilation of 95 ice temperature profiles from 85 boreholes from the Greenland ice sheet and peripheral ice caps, as well as local ice caps in the Canadian Arctic. Profiles from only 31 boreholes (36 %) were previously available in open-access data repositories. The remaining 54 borehole profiles (64 %) are being made digitally available here for the first time. These newly available profiles, which are associated with pre-2010 boreholes, have been submitted by community members or digitized from published graphics and/or data tables. All 95 profiles are now made available in both absolute (meters) and normalized (0 to 1 ice thickness) depth scales and are accompanied by extensive metadata. These metadata include a transparent description of data provenance. The ice temperature profiles span 70 years, with the earliest profile being from 1950 at Camp VI, West Greenland. To highlight the value of this database in evaluating ice flow simulations, we compare the ice temperature profiles from the Greenland ice sheet with an ice flow simulation by the Parallel Ice Sheet Model (PISM). We find a cold bias in modeled near-surface ice temperatures within the ablation area, a warm bias in modeled basal ice temperatures at inland cold-bedded sites, and an apparent underestimation of deformational heating in high-strain settings. These biases provide process level insight on simulated ice temperatures.
|
|
