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Τρίτη 20 Νοεμβρίου 2018

Turning a negative into a positive

In this volume of The Journal, Tester et al described the results of a large study employing whole exome sequencing for rare variants in sudden infant death syndrome (SIDS). These investigators carried out whole exome sequencing on 278 cases of SIDS and compared the results to 973 ethnic-matched controls. One Reviewer remarked, "Many of us have been waiting for this paper after its initial presentation in oral form. There was a sharp intake of breath around the room as an essentially negative report came out." Indeed, while no exome-wide significant differences (P < 2.5 × 10−6) in burden of ultra-rare variants was detected for any genes this is still a notable effort.

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