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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

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  1. Article

    Open Access

    Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases

    Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. Yet, many cases remain undiagnos...

    Elias L. Salfati, Emily G. Spencer, Sarah E. Topol, Evan D. Muse… in Genome Medicine (2019)

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