Publications by authors named "Frederique S Bena"
Article Synopsis
- Large-scale statistical analyses identify disease-gene relationships but fail to accurately represent how specific genetic variations affect observable traits and disease mechanisms.
- The study focuses on the SATB1 gene, showing that different types of variants lead to similar yet distinct neurodevelopmental disorders, revealing notable genotype-phenotype relationships.
- Variants causing strong chromatin binding lead to severe disorders, while those causing mild effects highlight the need for detailed studies on specific mutations to better understand the complexities of genetic diseases.
Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been reported in the literature but never fully described nor their pathogenicity assessed. Here, we report two unrelated patients with moderate hearing-loss, who were compound heterozygotes for a converted allele and a deletion of OTOA.
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- Schizophrenia affects about 25% of individuals with 22q11.2 deletion syndrome (22q11.2DS), prompting a study to explore genetic factors that heighten this risk beyond the deletion itself.
- Researchers analyzed whole-genome sequencing data from 519 people with 22q11.2DS to compare genetic variants in those with schizophrenia to those without psychotic disorders, as well as assessing polygenic risk across broader populations.
- The study found that individuals with 22q11.2DS and schizophrenia had significantly higher polygenic risk scores for schizophrenia, highlighting that both the genetic deletion and other common risk factors play a crucial role in the increased likelihood of developing schizophrenia.
Reproducibility in research can be compromised by both biological and technical variation, but most of the focus is on removing the latter. Here we investigate the effects of biological variation in HeLa cell lines using a systems-wide approach. We determine the degree of molecular and phenotypic variability across 14 stock HeLa samples from 13 international laboratories.
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