Project description:Hispanic/Latino populations possess a complex genetic structure that reflects recent admixture among and potentially ancient substructure within Native American, European, and West African source populations. Here, we quantify genome-wide patterns of SNP and haplotype variation among 100 individuals with ancestry from Ecuador, Colombia, Puerto Rico, and the Dominican Republic genotyped using Illumina technology.
Project description:Chromosomal microarray analysis (CMA) in prenatal diagnosis detects copy number variations (CNVs) in many fetuses; however, the low penetrance and phenotypic diversity of CNVs complicate genetic counseling, resulting in limited understanding of intrauterine ultrasound phenotypes linked to CNVs. In a retrospective analysis of 25,000 cases at Fujian Maternal and Child Health Hospital, 18,000 pregnant women underwent SNP array testing (December 2015 to June 2023).
2024-08-14 | GSE274505 | GEO
Project description:Ovarian Cancer Genetic Testing
Project description:Routine karyotyping combined with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal. In addition, if conventional karyotype, CMA detection and WES detection are normal, then further molecular biology methods can be used to rule out disease phenotypes like BWS syndrome. We analyzed the ultrasonographic features, genetic characteristics, and maternal and fetal outcomes of fetuses with omphalocele and provide a reference for perinatal management of such cases.
2023-09-27 | GSE235430 | GEO
Project description:Genetic testing of tumor family
| PRJNA485228 | ENA
Project description:Genetic diversity of Agaricia undata in Colombia
Project description:Transcriptome analysis of human inner ear tissue Hearing loss is common and caused by a wide range of molecular and cellular pathologies. Current diagnosis of hearing loss depends of a combination of physiologic testing, patient history and in some cases genetic testing. Currently no biopsy or equivalent procedure exists to diagnose inner ear disorders. The goal of this study was to determine if miRNAs could be identified in human perilymph potentially leading to the development of biomarkers for inner ear disease. Analysis of miRNAs was carried out by evaluating miRNA targets in a cochlear transcriptome library (GSE128505) derived from human inner ear tissue harvested during surgery in which the inner ear is removed.
