Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing-Based Molecular Autopsies [Original Articles]

Conclusions— An SDY-parent, trio-based WEMA may be an effective way of elucidating a monogenic cause of death and bringing clarity to otherwise ambiguous variants. If other studies confirm this relatively high rate of SDY cases stemming from de novo mutations, then the WEMA should become even more cost-effective given that the decedent’s first-degree relatives should only need minimal cardiological evaluation. In addition, autopsy-sourced DNA demonstrated strikingly lower whole-exome sequencing coverage than DNA from fresh blood draw.

http://circgenetics.ahajournals.org/cgi/content/short/10/5/e001828?rss=1

Source: Circulation: Cardiovascular Genetics - October 6, 2017 Category: Cardiology Authors: Shanks, G. W., Tester, D. J., Nishtala, S., Evans, J. M., Ackerman, M. J. Tags: Arrhythmias, Sudden Cardiac Death, Ion Channels/Membrane Transport, Genetics, Hypertrophy Original Articles Source Type: research