Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Hariharan RajuJames S WareJonathan R SkinnerPaula L HedleyGavin ArnoDonald R LoveChristian van der WerfJacob Tfelt-HansenBo Gregers WinkelMarta C CohenXinzhong LiShibu JohnSanjay SharmaSteve JefferyArthur A M WildeMichael ChristiansenMary N SheppardElijah R Behr

Published in: BMC cardiovascular disorders (2019)

Molecular autopsy with Fluidigm Access Array and Illumina HiSeq NGS utilizing a selected panel of LQTS/BrS and CPVT risk-genes offers moderate diagnostic yield, albeit requiring confirmatory Sanger-sequencing of mutational variants.

Keyphrases

copy number
single cell
high throughput
genome wide
single molecule
high resolution
high intensity
dna methylation
gene expression
mass spectrometry
transcription factor
circulating tumor
label free