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- Fresard, Laure, et al.
(författare)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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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.
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| 2. |
- Lee, Christina, 1992, et al.
(författare)
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Production Across the Nordics
- 2022
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- In the uncertain and volatile market that companies are currently facing worldwide, researchers and engineers become a key link to strengthen the industry and universities in order to understand, communicate, and tackle current challenges. In the PhD course, International Production, the goal is to investigate what makes Sweden and Iceland booming industrial hubs driven by technology. Through the visits to different types of industries, such as fintech, medical, or automotive industry, we as researchers have gained a better understanding of the challenges they are currently facing. This report is a summary of our findings and observations. The participants have focused on the six challenge areas highlighted within the Produktion2030 graduate school and summarize their findings as: •Resource-efficient production: Data as a resource is becoming increasingly important for the majority of companies in the Nordics and the application of traditional resource management tools on data is a suggested area for future research. •Flexible production: To strengthen organizations by enabling production systems to be flexible to address market variations is a key challenge to consider in the manufacturing industry •Virtual production development: Digitalization level is distinct in each Nodic country with the reason that each country has its own digitalization transformation policy and different measures on digitalization level. •Humans in the production system: Humans are central in the production systems of the visited companies. Use of automation technology and AI to support humans in their work may become more common in the future. •Circular production systems and maintenance: Circular production systems require a complex approach through the whole value chain. Industry in the Nordics has started the adoption of a circularity approach. •Integrated product and production development: Integration of product and production development is a key business factor for the Nordic countries, and geographical proximity between the two departments can have a beneficial effect. We hope that this report provides more details regarding the success and current challenges of the Swedish and Icelandic enterprises.
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