Publications by authors named "Blandine Rapin"
Article Synopsis
- - Non-invasive prenatal testing (NIPT) is gaining popularity for its effectiveness in detecting fetal chromosomal issues, but it can also uncover unexpected health conditions in the mother.
- - A specific case showed that NIPT identified a chromosomal duplication in a fetus that raised concerns about Potocki-Lupski syndrome, but it turned out to be a hereditary condition from the mother, who has Charcot-Marie-Tooth neuropathy.
- - As NIPT expands to cover more genetic conditions, it's important for healthcare providers to prepare for the possibility of discovering maternal health issues during pre-test genetic counseling.
Cancer genomes frequently contain somatic copy number alterations (SCNA) that can significantly perturb the expression level of affected genes and thus disrupt pathways controlling normal growth. In melanoma, many studies have focussed on the copy number and gene expression levels of the BRAF, PTEN and MITF genes, but little has been done to identify new genes using these parameters at the genome-wide scale. Using karyotyping, SNP and CGH arrays, and RNA-seq, we have identified SCNA affecting gene expression ('SCNA-genes') in seven human metastatic melanoma cell lines.
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