The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan A. Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi L. Rehm
Abstract
Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for the use of clinical WGS.
Topics & Concepts
Whole genome sequencingHuman geneticsTranslational bioinformaticsMedicineGenomeDNA sequencingPersonal genomicsDiseaseMedical geneticsClinical PracticeRare diseaseComputational biologyGenomicsGeneticsBiologyFamily medicineGeneInternal medicineGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetic factors in colorectal cancer