Healthy Volunteers study with WGS data on dbGaP (4 participants)

phs003781 — Transgenerational Transmission of Post-Zygotic Mutations Suggests    Symmetric Contribution of First Two Blastomeres to Human Germline

<p>Skin and blood samples were collected from four phenotypically normal individuals (mother, father, and children) from a randomly selected family. Whole genomes of the samples from these individuals were sequenced to a depth of 30X-200X. Sequencing data for the mother was previously analyzed and is available at <a href="https://nda.nih.gov/">NDA collection</a> #2961. Sequenced reads from the children and father were aligned to the human reference genome (hg19) generating BAM files for each individual. We used post-zygotic mutations in the mother to trace cell lineages across human generations. Analysis of this family demonstrated that different cell lineages were transmitted to offspring. Coupled with analysis of publicly available data, this result revealed a fundamental difference between soma and germline in lineage allocation and suggested a 50:50 contribution of the first two blastomeres to the germline.</p>