METHODS FOR ASSESSING RISK OF OR DIAGNOSING GENETIC DEFECTS BY IDENTIFYING DE NOVO MUTATIONS OR SOMATIC MOSAIC VARIANTS IN SPERM OR SOMATIC TISSUES

摘要

Provided are compositions and methods for assessing the genetic makeup of sperm comprising use of Digital Droplet PCR, wherein optionally the genetic makeup of the sperm is screened for the presence of a genetic defect or trait, or the genetic makeup of the sperm is screened for a de novo genetic mutation. Provided are compositions, including products of manufacture and kits, and methods, for determining the risk of inheritance of a genetic defect or trait in a younger child or a potential sibling, wherein the younger child or potential sibling has an older sibling having the genetic defect or trait. Provided are compositions and methods for determining a man or woman's risk of having a child with a genetic defect or a disease caused by a genetic defect or a trait such as autism, schizophrenia, heart disease, congenital heart disease or a neurocutaneous disease.