Investigation of the genetic cause of inherited disorders of reproduction

National Institute Of Environmental Health Sciences

Investigators

Abstract

Over the past year, 9 additional probands and 10 family members were enrolled. DNA was obtained via collection of blood or saliva samples (the latter mainly to allow for remote participation) and questionnaires and smell tests were completed. We sent 38 samples for whole exome sequencing at the NIEHS Sequencing and Genomics Core in early 2023; these data are now under analysis in collaboration with our bioinformatics colleagues. NHGRI also accepted our project for the Secondary Genomic Findings Service for current and future participants and our Genomic Data Sharing Plan was approved.