Project description:Whole-genome sequences of extinct and living lions revealed their population history, with special emphasis on characterising the evolutionary relationships between cave and modern lions. We also assessed the genetic heterozygosity in different present-day lion populations.
Project description:A great percentage of patients with multiple primary cancers (MPCs) and family history of cancer are suspected to have a hereditary cancer predisposition syndrome. However, only a small proportion of these cases are explained by mutations in high-penetrance genes, suggesting the involvement of undiscovered genes in cancer predisposition. In this study, we report the molecular and clinical characterization of two unrelated patients with MPCs, a positive family history of cancer, no germline pathogenic mutations in BRCA1, BRCA2 and TP53 genes and large genomic rearrangements mapped on chromosome 7q.
Project description:Genome-scale DNA methylation profiles at nucleotide resolution covering the vast majority of CpG islands and a representative sampling of conserved non-coding elements, transposons and other genomic features generated using high-throughput reduced representation bisulfite sequencing (RRBS) for murine hematopoietic stem cells during ontongeny and after enforced prolferative history. Analysis of hematopoietic stem cell methylation during ontogeny and after undergoing enforced proliferative history
Project description:Modern genetic data combined with appropriate statistical methods have the potential to contribute substantially to our understanding of human history. We have developed an approach that exploits the genomic structure of admixed populations to date and characterize historical mixture events at fine scales. We used this to produce an atlas of worldwide human admixture history, constructed using genetic data alone and encompassing over 100 events occurring over the past 4,000 years. We identify events whose dates and participants suggest they describe genetic impacts of the Mongol Empire, Arab slave trade, Bantu expansion, first millennium CE migrations in eastern Europe, and European colonialism, as well as unrecorded events, revealing admixture to be an almost universal force shaping human populations.