Article
Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death: Verification of Next-Generation Sequencing Panels for Hereditary Cardiovascular Conditions Using Formalin-Fixed Paraffin-Embedded Tissues and Dried Blood Spots.
Circulation. Cardiovascular genetics - 1 Dec 2017
Baudhuin Linnea M, Leduc Charles, Train Laura J, Avula Rajeswari, Kluge Michelle L, Kotzer Katrina E, Lin Peter T, Ackerman Michael J, Maleszewski Joseph J
Abstract excerpt
BACKGROUND: Postmortem genetic testing for heritable cardiovascular (CV) disorders is often lacking because ideal specimens (ie, whole blood) are not retained routinely at autopsy. Formalin-fixed paraffin-embedded tissue (FFPET) is ubiquitously collected at autopsy, but DNA quality hampers its use with traditional sequencing methods. Targeted next-generation sequencing may offer the ability to circumvent such...
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