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  1. Article

    Open Access

    Impact of polygenic risk communication: an observational mobile application-based coronary artery disease study

    We developed a smartphone application, MyGeneRank, to conduct a prospective observational cohort study (NCT03277365) involving the automated generation, communication, and electronic capture of response to a poly...

    Evan D. Muse, Shang-Fu Chen, Shuchen Liu, Brianna Fernandez… in npj Digital Medicine (2022)

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  2. 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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  3. No Access

    Article

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

    Joseph Gleeson and colleagues report whole-exome sequencing of a cohort of over 1,000 individuals from the Greater Middle East, characterizing common and rare variants. They find evidence of subregional divers...

    Eric M Scott, Anason Halees, Yuval Itan, Emily G Spencer, Yupeng He… in Nature Genetics (2016)