Project description:This project was the generation and analysis of 1240k capture data from 70 ancient Sardinians. This work was done in collaboration between the research groups of John Novembre (data analysis), Johannes Krause (aDNA generation) and Francesco Cucca, resulting in a publication in 2019.
Project description:The Italian island of Sardinia is well known in studies of human population isolates. It is also home to the Fonni's Dog, a breed of canine whose development was reliant on the functionality of the dog. Using genome-wide variant and sequence analyses, we have characterized the Fonni's Dog relative to 27 other dog breeds from the Mediterranean region. We determine introgression events relevant to Mediterranean breed development and describe how the Fonni's dog presents an intriguing model demonstrating the characteristics of traditional human population isolates and, in particular, exhibiting the unique demographic composition of the people of Sardinia.
Project description:The Italian island of Sardinia is well known in studies of human population isolates. It is also home to the Fonni's Dog, a breed of canine whose development was reliant on the functionality of the dog. Using genome-wide variant and sequence analyses, we have characterized the Fonni's Dog relative to 27 other dog breeds from the Mediterranean region. We determine introgression events relevant to Mediterranean breed development and describe how the Fonni's dog presents an intriguing model demonstrating the characteristics of traditional human population isolates and, in particular, exhibiting the unique demographic composition of the people of Sardinia.
Project description:The Italian island of Sardinia is well known in studies of human population isolates. It is also home to the Fonni's Dog, a breed of canine whose development was reliant on the functionality of the dog. Using genome-wide variant and sequence analyses, we have characterized the Fonni's Dog relative to 27 other dog breeds from the Mediterranean region. We determine introgression events relevant to Mediterranean breed development and describe how the Fonni's dog presents an intriguing model demonstrating the characteristics of traditional human population isolates and, in particular, exhibiting the unique demographic composition of the people of Sardinia.
Project description:Gene order, or microsynteny, is generally thought not to be conserved across metazoan phyla. Only a handful of exceptions, typically of tandemly duplicated genes such as Hox genes, have been discovered. Here, we performed a systematic survey for microsynteny conservation in 17 genomes and identified nearly 600 pairs of unrelated genes that have remained together across over 600 million years of evolution. Using multiple genome-wide resources, including several genomic features, epigenetic marks, sequence conservation and microarray expression data, we provide extensive evidence that many of these ancient microsyntenic arrangements have been conserved in order to preserve either (i) the coordinated transcription of neighboring genes, or (ii) Genomic Regulatory Blocks (GRBs), in which transcriptional enhancers controlling key developmental genes are contained within nearby “bystander” genes. In addition, we generated ChIP-seq data for key histone modifications in zebrafish embryos to further investigate putative GRBs in embryonic development. Finally, using chromosome conformation capture (3C) assays and stable transgenic experiments, we demonstrate that enhancers within bystander genes drive the expression of genes such as Otx and Islet, critical regulators of central nervous system development across bilaterians. These results show that ancient genomic associations are far more common in modern metazoans than previously thought – likely involving over 12% of the ancestral bilaterian genome – and that cis-regulatory constraints have played a major role in conserving the architecture of metazoan genomes. ChIP-seq H3K27me3 of 24hpf zebrafish embryos
Project description:The next generation of personalized medical treatment according to the type of personal genetic information are evolving rapidly. The genome analysis needs systematic infra and database based on personal genetic information. Therefore, a big data of genome-clinical information is important.
To determine the feasibility of the use of tumor’s molecular profiling and targeted therapies in the treatment of advanced cancer and to determine the clinical outcome(Response rate,PFS, duration of response and overall survival )of patients with advanced cancer, the investigators are going to take a tumor tissue of patients and process molecular profiling and receive molecular profile directed treatments.
| 2201468 | ecrin-mdr-crc
Project description:Sixth Century Szólád and Collegno 1240K capture
Project description:The Italian island of Sardinia is well known in studies of human population isolates. It is also home to the Fonni's Dog, a breed of canine whose development was reliant on the functionality of the dog. Using genome-wide variant and sequence analyses, we have characterized the Fonni's Dog relative to 27 other dog breeds from the Mediterranean region. We determine introgression events relevant to Mediterranean breed development and describe how the Fonni's dog presents an intriguing model demonstrating the characteristics of traditional human population isolates and, in particular, exhibiting the unique demographic composition of the people of Sardinia. 4 canine samples representing 1 dog breed
Project description:The Italian island of Sardinia is well known in studies of human population isolates. It is also home to the Fonni's Dog, a breed of canine whose development was reliant on the functionality of the dog. Using genome-wide variant and sequence analyses, we have characterized the Fonni's Dog relative to 27 other dog breeds from the Mediterranean region. We determine introgression events relevant to Mediterranean breed development and describe how the Fonni's dog presents an intriguing model demonstrating the characteristics of traditional human population isolates and, in particular, exhibiting the unique demographic composition of the people of Sardinia. 82 canine samples representing 9 dog breeds
Project description:The Italian island of Sardinia is well known in studies of human population isolates. It is also home to the Fonni's Dog, a breed of canine whose development was reliant on the functionality of the dog. Using genome-wide variant and sequence analyses, we have characterized the Fonni's Dog relative to 27 other dog breeds from the Mediterranean region. We determine introgression events relevant to Mediterranean breed development and describe how the Fonni's dog presents an intriguing model demonstrating the characteristics of traditional human population isolates and, in particular, exhibiting the unique demographic composition of the people of Sardinia. 51 canine samples representing 12 dog breeds