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

  Utökad sökning

Träfflista för sökning "WFRF:(Marom G) "

Sökning: WFRF:(Marom G)

  • Resultat 1-5 av 5
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  •  
2.
  •  
3.
  • Fresard, Laure, et al. (författare)
  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
  • 2019
  • Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
  • Tidskriftsartikel (refereegranskat)abstract
    • It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
  •  
4.
  • Kislev, T., et al. (författare)
  • On the nature of opaque cylindrical regions formed at fibre break sites in a fragmentation test
  • 2002
  • Ingår i: Advanced Composites Letters. - : SAGE Publications. - 0963-6935 .- 2633-366X. ; 11:1, s. 7-13
  • Tidskriftsartikel (refereegranskat)abstract
    • When a single-fibre composite test is performed to obtain information about the interfacial adhesion in a composite, a gradual strain increase often causes an opaque (black) cylinder to nucleate at, and grow from, the fibre failure sites. The nature of the opaque cylinder is difficult to ascertain using optical microscopy. This is the subject of the present note. To study the inside of the opaque cylinder we use several experimental methods based on imaging the failed region: optical microscopy, laser Raman spectroscopy and scanning electron microscopy. Mechanical models, including FEM analysis and analytic equations based on the shear-lag, approach, are used to discuss the experimental work. The nature and growth mechanism of the opaque cylinder are of importance in defining the parameters and/or contributions that appear in both the force balance and the. energy balance schemes.
  •  
5.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-5 av 5

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