Project description:Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested that they may accumulate in elderly individuals. To further explore the presence and the age-related acquisition of somatic structural variants in the human genome, we investigated CNVs acquired over a period of 10 years in 86 elderly Danish twins as well as CNV discordances between co-twins of 18 monozygotic twin pairs. Furthermore, the presence of mosaic structural variants was explored.
Project description:Complimation of variants calls from three idependent cohorts, allowing for calls of rare and common vairants. All samples derived from a Danish research projects with recruitment of individuals of Danish origin (N> 8000).
Minor allele counts below 5 are masked to keep information de-identified level s.
Project description:A new genome of Fraxinus excelsior (PRJNA865134) was assembled using a hybrid approach combining Nanopore and Illumina data. The gene expression of a 182 Danish tree panel (Harper et al. 2016) was assessed using the new genome as reference (BioProject PRJNA865134, SAMN30100368, genome JANJPF000000000 ).Manuscript title: Fraxinus excelsior updated long-read genome reveals the importance of MADS-box genes in tolerance mechanisms against ash dieback, G3:Genes|Genomes|Genetics
Project description:Female breast cancer patients who underwent surgery for breast cancer as part of the Danish Center for Translational Breast Cancer Research program were included from 2003 to 2012. Patient inclusion criteria were: (1) a unifocal tumor with an estimated size of more than 20 mm in diameter, (2) none of the patients had a history of breast surgery and (3) none received preoperative treatment. Patients were defined as high risk according to the Danish Breast Cooperative Group (www.dbcg.dk) and were followed after surgery.