Population genetic screening efficiently identifies carriers of autosomal dominant diseases

Joseph J. Grzymski, Gai Elhanan, Joel A. Morales‐Rosado, Emily Smith, Karen Schlauch, Robert W. Read, Chris Rowan, Nathan R. Slotnick, Shaun Dabe, William J. Metcalf,

Nature Medicine · 2020 · 218 citations · 21 references

Concepts

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