ArticleScientific reports2016
Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 21 citations in OpenAlex.
- Different perspectives on translational genomics in personalized medicineJournal of the Turkish German Gynecological Association · 2022Article
- Coordinated Expressional Landscape of the Human Placental miRNome and Transcriptome.Frontiers in cell and developmental biology · 2021Article
- Protein Network Analysis of Whole Exome Sequencing of Severe Preeclampsia.Frontiers in genetics · 2021Article
- Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA.Current hypertension reports · 2020Review
- Article
- Drug-sensitive FGFR3 mutations in lung adenocarcinoma.Annals of oncology : official journal of the European Society for Medical Oncology · 2017Article
- Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples.Scientific reports · 2016Article
- Placental Genetic Variants in the Upstream Region of the FLT1 Gene in Pre-eclampsia.Journal of reproduction & infertilityArticle
Corrections and comments
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Authors and funding
10 authors at 8 institutions in 3 countries.
Funding
Abstract
Pre-eclampsia is a common pregnancy disorder that is a major cause for maternal and perinatal mortality and morbidity. Variants predisposing to pre-eclampsia might be under negative evolutionary selection that is likely to keep their population frequencies low. We exome sequenced samples from a hundred Finnish pre-eclamptic women in pools of ten to screen for low-frequency, large-effect risk variants for pre-eclampsia. After filtering and additional genotyping steps, we selected 28 low-frequency missense, nonsense and splice site variants that were enriched in the pre-eclampsia pools compared to reference data, and genotyped the variants in 1353 pre-eclamptic and 699 non-pre-eclamptic women to test the association of them with pre-eclampsia and quantitative traits relevant for the disease. Genotypes from the SISu project (n = 6118 exome sequenced Finnish samples) were included in the binary trait association analysis as a population reference to increase statistical power. In these analyses, none of the variants tested reached genome-wide significance. In conclusion, the genetic risk for pre-eclampsia is likely complex even in a population isolate like Finland, and larger sample sizes will be necessary to detect risk variants.
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Registered trials
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