| 1. |
- 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.
|
|
| 2. |
- Nave, Gillian, et al.
(författare)
-
Atomic data for astrophysics : Needs and challenges
- 2019
-
Ingår i: Bulletin of the American Astronomical Society.
-
Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- We describe the impact of atomic spectroscopy on astrophysics and future requirements for atomic data. These requirements cannot be met with current levels of funding for laboratory astrophysics. The situation could be substantially improved with relatively small investment from the funding agencies.
|
|
| 3. |
- Rissech, Carme, et al.
(författare)
-
Skeletal remains of human perinatal individuals from the fortified Iberian Period settlement of Ca n’Oliver (6th century to 50 years BCE)
- 2023
-
Ingår i: Archaeological and Anthropological Sciences. - 1866-9557 .- 1866-9565. ; 15:10
-
Tidskriftsartikel (refereegranskat)abstract
- Burial customs in the Iberian Period (Iron Age II) included cremation. Only perinatal and newborn infants were buried directly beneath floor settlement. These infants represent the very few unburned human remains recovered from Iberian sites. The interpretation of these infant burials is in debate, focusing on whether they are unnatural or natural deaths. Our aim is to infer mortality patterns and developmental conditions of these individuals, in order to respond if infanticide was present in these assemblages. A large perinatal human skeletal sample from the Ca n’Oliver site (sixth century to 50 years BCE) from the Iberian Period of the northeast of the Iberian Peninsula was analysed, combining osteological methods together with tooth histology and aDNA analysis. Combining osteological and odontological estimates indicated ages between 22 and 42 weeks of gestation for 47 out of a total of 48 individuals. The remaining individual died at about 6 months after birth. Tooth height and enamel histology indicated in 9 out of a subgroup of 13 individuals a low probability of live birth. The remaining 4 individuals possibly survived birth for less than 2 months. According to morphological and molecular results, the sex ratio of this sample is approximately 1:1 male to female. The mortality distribution is consistent with natural mortality. These perinatal deaths were probably spontaneous abortions and neonatal deaths, reflecting an endogenous mortality profile due to genetic and maternal influences. The present study will serve to broaden our knowledge on perinatal individuals of the Iberian Period.
|
|
| 4. |
- Sudre, Carole H., et al.
(författare)
-
Attributes and predictors of long COVID
- 2021
-
Ingår i: Nature Medicine. - : Springer Nature. - 1078-8956 .- 1546-170X. ; 27:4, s. 626-631
-
Tidskriftsartikel (refereegranskat)abstract
- Reports of long-lasting coronavirus disease 2019 (COVID-19) symptoms, the so-called ‘long COVID’, are rising but little is known about prevalence, risk factors or whether it is possible to predict a protracted course early in the disease. We ana- lyzed data from 4,182 incident cases of COVID-19 in which individuals self-reported their symptoms prospectively in the COVID Symptom Study app1. A total of 558 (13.3%) partici- pants reported symptoms lasting ≥28 days, 189 (4.5%) for ≥8 weeks and 95 (2.3%) for ≥12 weeks. Long COVID was characterized by symptoms of fatigue, headache, dyspnea and anosmia and was more likely with increasing age and body mass index and female sex. Experiencing more than five symptoms during the first week of illness was associated with long COVID (odds ratio = 3.53 (2.76–4.50)). A simple model to distinguish between short COVID and long COVID at 7 days (total sample size, n = 2,149) showed an area under the curve of the receiver operating characteristic curve of 76%, with replication in an independent sample of 2,472 individuals who were positive for severe acute respiratory syndrome coronavi- rus 2. This model could be used to identify individuals at risk of long COVID for trials of prevention or treatment and to plan education and rehabilitation services.
|
|
