2021
DOI: 10.1016/j.fsigen.2021.102522
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Technical in-depth comparison of two massive parallel DNA-sequencing methods for formalin-fixed paraffin-embedded tissue from victims of sudden cardiac death

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Cited by 3 publications
(5 citation statements)
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References 31 publications
(37 reference statements)
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“…High concordance and lack of artefacts might in part be explained by the comparatively high and uniform coverage obtained in the FFPE samples. Hybridization capture has previously been shown to yield very uniform sequencing compared to amplicon-based protocols [ 23 , 54 ].…”
Section: Discussionmentioning
confidence: 99%
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“…High concordance and lack of artefacts might in part be explained by the comparatively high and uniform coverage obtained in the FFPE samples. Hybridization capture has previously been shown to yield very uniform sequencing compared to amplicon-based protocols [ 23 , 54 ].…”
Section: Discussionmentioning
confidence: 99%
“…The Twist protocol adopted for FFPE samples using UMIs and Westburg library preparation w/wo enzymatic fragmentation steps has previously been validated for SCD using the cardio diagnostic gene panel CDGP. In short, depending on the degree of fragmentation, the FFPE material was either fragmented further or just end-repaired prior to library preparation where UMI probes were incorporated, followed by pooling and hybridization with Twist ds DNA core exome probes with Twist Human Ref Seq spiked-in [ 23 ].…”
Section: Methodsmentioning
confidence: 99%
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“…During the last decade, new powerful techniques have emerged that make whole genome sequencing possible in routine work, by massive parallel sequencing (MPS) (78,90). A recent application in forensic and clinical casework is genotyping in suspected sudden cardiac deaths (90,91). Adolfsson et al describes a methodology based on a cardio diagnostic gene panel of 81 genes connected to several diseases including variants of cardiomyopathy and QT syndromes (91).…”
Section: Pharmacogeneticsmentioning
confidence: 99%
“…A recent application in forensic and clinical casework is genotyping in suspected sudden cardiac deaths (90,91). Adolfsson et al describes a methodology based on a cardio diagnostic gene panel of 81 genes connected to several diseases including variants of cardiomyopathy and QT syndromes (91). Advantages of full-gene haplotype analysis with MPS in order to predict CYP2D6 metabolizing phenotype was identified by Wendt et al, that concluded an underestimation of poor and intermediate metabolizers using targeted SNPs analysis (92).…”
Section: Pharmacogeneticsmentioning
confidence: 99%