Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
<h4>Purpose</h4> <p>Given the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalyzing previously generated genomic sequence data in light of new knowledge.</p> <h4>Methods</h4>...
Main Authors: | , , , , , , , , , , , , , , , , , |
---|---|
Format: | Journal article |
Published: |
Nature Publishing Group
2018
|