ena-STUDY-GIGA-R University of Liege-05-04-2017-12:58:09:332-607
Damona - WGS of three and four generation Bos taurus pedigrees
It has recently become possible to directly estimate the germ-line de novo mutation (DNM) rate by sequencing the whole genome of father-mother-offspring trios, and this has been conducted in human, chimpanzee, birds and fish.  In these studies DNMs are defined as variants that are heterozygous in the offspring while being absent in both parents.  They are assumed to have occurred in the germ-line of a parent and to have been transmitted to the offspring via the sperm or oocyte. Here we investigate the properties of de novo mutation in cattle and utilise the unique pedigree structure of Dairy cattle to investigate mosaic de novo mutations.
It has recently become possible to directly estimate the germ-line de novo mutation (DNM) rate by sequencing the whole genome of father-mother-offspring trios, and this has been conducted in human, chimpanzee, birds and fish.  In these studies DNMs are defined as variants that are heterozygous in the offspring while being absent in both parents.  They are assumed to have occurred in the germ-line of a parent and to have been transmitted to the offspring via the sperm or oocyte. Here we investigate the properties of de novo mutation in cattle and utilise the unique pedigree structure of Dairy cattle to investigate mosaic de novo mutations.