Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

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Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17. Research Support, Non-U.S. Gov't

Implementation of a robust translational genomics workflow is achievable within a large-scale rare disease research study to…

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data Human genome…

Genomic variants were filtered on the basis of six factors, of which the first five were automated and the final one was done…

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