SwePub
Tyck till om SwePub Sök här!
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Zhang SL) ;hsvcat:3"

Sökning: WFRF:(Zhang SL) > Medicin och hälsovetenskap

  • Resultat 1-10 av 66
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  •  
2.
  •  
3.
  •  
4.
  •  
5.
  • Campbell, PJ, et al. (författare)
  • Pan-cancer analysis of whole genomes
  • 2020
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
  • 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.
  •  
6.
  •  
7.
  •  
8.
  • Momozawa, Y, et al. (författare)
  • IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
  • 2018
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1, s. 2427-
  • Tidskriftsartikel (refereegranskat)abstract
    • GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 candidate genes in 6600 Crohn disease (CD) cases and 5500 controls, and show with burden tests that they include likely causative genes. Our analyses indicate that ≥10-fold larger sample sizes will be required to demonstrate the causality of individual genes using this approach.
  •  
9.
  •  
10.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 66
Typ av publikation
tidskriftsartikel (66)
Typ av innehåll
refereegranskat (66)
Författare/redaktör
Jonas, JB (22)
Sepanlou, SG (22)
Gupta, R. (21)
Malekzadeh, R (21)
Brenner, H (20)
Farzadfar, F (20)
visa fler...
Banach, M (19)
Khader, YS (18)
Topor-Madry, R (18)
Kumar, P. (17)
Fischer, F (17)
Hay, SI (17)
Islam, SMS (17)
Koyanagi, A (17)
Lee, PH (17)
Mokdad, AH (17)
Panda-Jonas, S (17)
Pandey, A (17)
Shaikh, MA (17)
Sheikh, A (17)
Shiri, R (17)
Yonemoto, N (17)
Dandona, L (16)
Dandona, R (16)
Jozwiak, JJ (16)
Lotufo, PA (16)
Meretoja, TJ (16)
Mohammed, S (16)
Samy, AM (16)
Singh, JA (16)
Tran, BX (16)
Hosseinzadeh, M (15)
Hostiuc, S (15)
Jurisson, M (15)
Khan, M (15)
Khang, YH (15)
Kumar, GA (15)
Majeed, A (15)
Mansournia, MA (15)
Meretoja, A (15)
Miller, TR (15)
Mirrakhimov, EM (15)
Monasta, L (15)
Nangia, V (15)
Noubiap, JJ (15)
Olagunju, AT (15)
Renzaho, AMN (15)
Venketasubramanian, ... (15)
Waheed, Y (15)
Wang, YP (15)
visa färre...
Lärosäte
Karolinska Institutet (66)
Uppsala universitet (40)
Lunds universitet (19)
Göteborgs universitet (16)
Högskolan Dalarna (13)
Umeå universitet (12)
visa fler...
Linköpings universitet (4)
Högskolan i Skövde (4)
Chalmers tekniska högskola (3)
Örebro universitet (2)
Stockholms universitet (1)
Jönköping University (1)
Handelshögskolan i Stockholm (1)
Sveriges Lantbruksuniversitet (1)
visa färre...
Språk
Engelska (66)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (66)Ta bort avgränsningen
Naturvetenskap (3)
Samhällsvetenskap (2)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy