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>...

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Bibliographic Details
Main Authors: Wright, C, McRae, J, Clayton, S, Gallone, G, Aitken, S, FitzGerald, T, Jones, P, Prigmore, E, Rajan, D, Lord, J, Sifrim, A, Kelsell, R, Parker, M, Barrett, J, Hurles, M, FitzPatrick, R, Firth, H, on behalf of the DDD Study
Format: Journal article
Published: Nature Publishing Group 2018