Project description:Genome-wide DNA methylation profiling of over 850,000 methylation sites carried out using the Illumina MethylationEPIC BeadChip was used to compare 18 babies born with congenital Zika virus microcephaly, 7 babies exposed to Zika virus in utero but born without clinical signs, and 20 control unexposed unaffected babies
Project description:Genome wide DNA methylation profiling of placenta/cord blood/saliva samples obtained from babies born by oocyte in vitro maturation (IVM) or in vitro fertilization (IVF). The Illumina Infinium EPIC Human DNA methylation Beadchip v1.2 was used to obtain DNA methylation profiles across approximately 850,000 CpGs. The main goal of this project was to find specific methylation profiles associated to use of IVM.
Project description:The development of precision medicine strategies requires prior knowledge of the genetic background of the target population. However, despite the availability of data from admixed Americans within large reference population databases, we cannot use these data as a surrogate for that of the Brazilian population. This lack of transferability is mainly due to differences between ancestry proportions of Brazilian and other admixed American populations. To address the issue, a coalition of research centres created the Brazilian Initiative on Precision Medicine (BIPMed), an initiative of five Research Innovation and Dissemination Centers (RIDCs) supported by FAPESP.
Project description:This Series contains data from 845 participants (188 men and 657 women) in the EPIC-Italy cohort that was produced at the Human Genetics Foundation (HuGeF) in Turin, Italy. At the last follow-up (2010), 424 participants remained cancer-free, 235 had developed primary breast cancer, 166 had developed primary colorectal cancer, and 20 had developed other primary cancers. Anthropometric measurements, and dietary and lifestyle information obtained by questionnaire are also available. A total of 845 samples from the EPIC-Italy cohort were analyzed.
Project description:Heteromeric protein complexes are key macromolecular machines of the cell, but their description remains incomplete. We previously reported an experimental strategy for global characterization of native protein assemblies based on chromatographic fractionation of biological extracts coupled to precision mass spectrometry analysis (CF/MS), but the resulting data can be challenging to process and interpret. Here, we describe EPIC (Elution Profile-based Inference of Complexes), a software toolkit for automated scoring of CF/MS data for large-scale determination of high-confidence physical interaction networks and macromolecular assemblies from diverse biological specimens. As a case study, we used EPIC to map the global interactome of Caenorhabditis elegans, defining 590 putative worm protein complexes linked to diverse biological processes, including assemblies unique to nematodes. The EPIC software is freely available as a Jupyter notebook packaged in a Docker container (https://hub.docker.com/r/baderlab/bio-epic/), and the open source code is available via GitHub (https://github.com/BaderLab/EPIC).
Project description:Genome-wide DNA methylation profiling of buccal smears from children born via assisted reproductive technologies. The Illumina 850k Human DNA methylation EPIC BeadChip was used to obtain DNA methylation profiles across approximately 850,000 CpGs. Samples included 12 controls and 36 samples.
Project description:The aim of this study was to perform a genomic profiling of gliomas of Brazilian origin, using array-CGH, MSI analysis and to associate the genomic alterations with TERT and IDH1 mutation status, and correlate the molecular features with clinicopathological characteristics.
Project description:MicroRNA-sequencing of the bone marrow samples from Brazilian pediatric patients with B-cell acute lymphoblastic leukemia (B-ALL) and T-cell acute lymphoblastic leukemia (T-ALL).
Project description:Inactivation of the minor spliceosome has been linked to microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). To interrogate how minor intron splicing regulates cortical development, we employed Emx1-Cre to ablate Rnu11, which encodes the minor spliceosome-specific U11 small nuclear RNA (snRNA), in the developing cortex (pallium). Rnu11 cKO mice were born with microcephaly, caused by death of self-amplifying radial glial cells (RGCs). However, both intermediate progenitor cells (IPCs) and neurons were produced in the U11-null pallium. RNAseq of the pallium revealed elevated minor intron retention in the mutant, particularly in genes regulating cell cycle. Moreover, the only downregulated minor intron-containing gene (MIG) was Spc24, which regulates kinetochore assembly. These findings were consistent with the observation of fewer RGCs entering cytokinesis prior to RGC loss, underscoring the requirement of minor splicing for cell cycle progression in RGCs. Overall, we provide a potential explanation of how disruption of minor splicing might cause microcephaly in MOPD1.