Project description:Deep (>25x mean coverage) whole genome sequencing on 5-10 families drawn from the Scottish Family Health Study with four or more children.
Project description:Deep (>25x mean coverage) whole genome sequencing on 5-10 families drawn from the Scottish Family Health Study with four or more children.
Project description:Previously we performed deep WGS on 6 parents and 13 children from 3 large families from the Scottish Family Health Study to identify de novo mutations. This prelim is cover the additional sequencing of one grandchild from one of these three families. The inclusion of a third generation individual will provide additional experimental validation for the de novo mutations found in the initial trio. As in the previous study, the DNA will be WGS to a depth of approximately 25X to achieve this purpose.
Project description:Previously we performed deep WGS on 6 parents and 13 children from 3 large families from the Scottish Family Health Study to identify de novo mutations. This prelim is cover the additional sequencing of one grandchild from one of these three families. The inclusion of a third generation individual will provide additional experimental validation for the de novo mutations found in the initial trio. As in the previous study, the DNA will be WGS to a depth of approximately 25X to achieve this purpose.
These data can only be used for the investigation of the genetic causes of the reported clinical phenotypes in these patients
Project description:Genome wide DNA methylation profiling of whole blood cells. The the Illumina Infinium MethylationEPIC microarray was used. Two children's cohorts were studied: 29 children residing in the orphanages (institutional care group, IC) and 29 children being raised in biological families (biological family care group, BFC)
Project description:A comparative panoramic mass spectrometric analysis of serum samples from three families with children with autistic disorders was carried out. The total number of examined samples was nine, including four control samples from healthy parents, and five samples from autistic children.
Project description:The study includes WGS data for DNA extracted from blood, fibroblasts or buccal swabs from sixteen family members, who represent four sub-families, each including two parents and one to three children, comprising a total of eight offspring. In two sub-families POLD1 L474P was carried by the father; in one sub-family, by the mother; and in the other sub-family, both parents had wild-type POLD1.
Project description:The Illumina Infinium 27k Human DNA methylation Beadchip v1.2 was used to obtain DNA methylation profiles across approximately 27,000 CpGs in white blood cells from women with and without BRCA1 mutation. Whole blood samples were drawn from 30 BRCA1 mutation carriers (15 women with breast cancer and 15 healthy women with mean age 57.2) and 30 females without BRCA1 mutation (15 breast cancers and 15 healthy with mean age 57.1). All samples were collected between 2001 and 2008. The samples were drawn from women attending the General Faculty Hospital in Prague and the complete coding sequence, intron-exon junctions and large rearrangements for BRCA1 and BRCA2 genes were tested.
Project description:In animals, microRNAs frequently form families with related sequences. The functional relevance of miRNA families and the relative contribution of family members to target repression have remained, however, largely unexplored. Here, we used the C. elegans miR-58 miRNA family, comprised primarily of four highly abundant members: miR-58.1, miR-80, miR-81 and miR-82, as a model to investigate the redundancy of miRNA family members and their impact on target expression in an in vivo setting.
Project description:In animals, microRNAs frequently form families with related sequences. The functional relevance of miRNA families and the relative contribution of family members to target repression have remained, however, largely unexplored. Here, we used the C. elegans miR-58 miRNA family, comprised primarily of four highly abundant members: miR-58.1, miR-80, miR-81 and miR-82, as a model to investigate the redundancy of miRNA family members and their impact on target expression in an in vivo setting.
