200
Participants
Start Date
March 1, 2018
Primary Completion Date
October 1, 2020
Study Completion Date
October 1, 2020
Whole Genome Sequencing
Participants in this arm will have their sample analyzed by whole genome sequencing (WGS), and a report will be included in their medical record. Analysis will be phenotype-driven (gene list will be curated based on primary indication for testing and other available medical history information), and may include genes on ACMG 59 list if participant elects for these results. This report will include pathogenic, likely pathogenic, and suspicious VUS results identified in the genes analyzed.
Massachusetts General Hospital, Boston
Collaborators (1)
Broad Institute of MIT and Harvard
OTHER
Laboratory for Molecular Medicine
UNKNOWN
Massachusetts General Hospital
OTHER