SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Lee Cheng Han) "

Sökning: WFRF:(Lee Cheng Han)

Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Forskningsöversikt (refereegranskat)
  •  
2.
  • Fuchsberger, Christian, et al. (författare)
  • The genetic architecture of type 2 diabetes
  • 2016
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 536:7614, s. 41-47
  • Tidskriftsartikel (refereegranskat)abstract
    • The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
  •  
3.
  • Mahajan, Anubha, et al. (författare)
  • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
  • 2014
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1546-1718 .- 1061-4036. ; 46:3, s. 234-234
  • Tidskriftsartikel (refereegranskat)abstract
    • To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant excess in the directional consistency of T2D risk alleles across ancestry groups, even at SNPs demonstrating only weak evidence of association. By following up the strongest signals of association from the trans-ethnic meta-analysis in an additional 21,491 cases and 55,647 controls of European ancestry, we identified seven new T2D susceptibility loci. Furthermore, we observed considerable improvements in the fine-mapping resolution of common variant association signals at several T2D susceptibility loci. These observations highlight the benefits of trans-ethnic GWAS for the discovery and characterization of complex trait loci and emphasize an exciting opportunity to extend insight into the genetic architecture and pathogenesis of human diseases across populations of diverse ancestry.
  •  
4.
  • Tidskriftsartikel (refereegranskat)
  •  
5.
  • Tidskriftsartikel (refereegranskat)
  •  
6.
  • Tidskriftsartikel (refereegranskat)
  •  
7.
  •  
8.
  • Flannick, Jason, et al. (författare)
  • Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
  • 2017
  • Ingår i: Scientific Data. - : Nature Publishing Group. - 2052-4463. ; 4
  • Tidskriftsartikel (refereegranskat)abstract
    • To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
  •  
9.
  • Flannick, Jason, et al. (författare)
  • Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
  • 2017
  • Ingår i: Scientific Data. - : Nature Publishing Group. - 2052-4463. ; 4
  • Tidskriftsartikel (refereegranskat)abstract
    • To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to 82 K Europeans via the exome chip, and similar to 90% of low-frequency non-coding variants in similar to 44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
  •  
10.
  • Satizabal, Claudia L., et al. (författare)
  • Genetic architecture of subcortical brain structures in 38,851 individuals
  • 2019
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:11, s. 1624-
  • Tidskriftsartikel (refereegranskat)abstract
    • Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.
  •  
Skapa referenser, mejla, bekava och länka
Typ av publikation
tidskriftsartikel (427)
forskningsöversikt (2)
konferensbidrag (1)
Typ av innehåll
refereegranskat (429)
övrigt vetenskapligt (1)
Författare/redaktör
Aad, G (482)
Zwalinski, L. (435)
Berger, N. (397)
Kastanas, A. (396)
Artamonov, A. (396)
Aleksa, M. (396)
visa fler...
Allport, P. P. (396)
Amelung, C. (396)
Anastopoulos, C. (396)
Antonelli, M. (396)
Arai, Y. (396)
Asquith, L. (396)
Assamagan, K. (396)
Bachacou, H. (396)
Baker, O. K. (396)
Banas, E. (396)
Barisonzi, M. (396)
Barnett, R. M. (396)
Bates, R. L. (396)
Bauer, F. (396)
Beck, H. P. (396)
Belanger-Champagne, ... (396)
Bella, G. (396)
Beltramello, O. (396)
Benary, O. (396)
Benekos, N. (396)
Benhammou, Y. (396)
Bentvelsen, S. (396)
Beringer, J. (396)
Berry, T. (396)
Bilokon, H. (396)
Blocker, C. (396)
Blumenschein, U. (396)
Bogaerts, J. A. (396)
Boisvert, V. (396)
Boonekamp, M. (396)
Borisov, A. (396)
Bos, K. (396)
Budagov, I. A. (396)
Bugge, L. (396)
Burckhart, H. (396)
Busato, E. (396)
Butler, J. M. (396)
Buttar, C. M. (396)
Butterworth, J. M. (396)
Calderini, G. (396)
Calvet, D. (396)
Carli, T. (396)
Caron, S. (396)
Carter, J. R. (396)
visa färre...
Lärosäte
Lunds universitet (405)
Kungliga Tekniska Högskolan (340)
Uppsala universitet (23)
Karolinska Institutet (13)
Umeå universitet (11)
Stockholms universitet (11)
visa fler...
Göteborgs universitet (3)
Linköpings universitet (3)
Chalmers tekniska högskola (1)
Högskolan Dalarna (1)
Sveriges Lantbruksuniversitet (1)
visa färre...
Språk
Engelska (430)
Forskningsämne (UKÄ/SCB)
Naturvetenskap (402)
Medicin och hälsovetenskap (25)
Teknik (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy