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Cardio sequencing kit

Manufactured by Illumina
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The Cardio Sequencing Kit is a laboratory equipment product designed for targeted sequencing of genes associated with cardiovascular health. The kit provides the necessary reagents and protocols to perform targeted next-generation sequencing (NGS) analysis of specific genomic regions related to cardiac conditions.

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Lab products found in correlation

Nextseq, by Illumina (3 mentions)

Spelling variants of this product

TruSight Cardio Sequencing kit (13 citations)

3 protocols using cardio sequencing kit

1

Extensive Testing of CardioClassifier

Cited 2 times
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In order to test CardioClassifier extensively we used data from the following sources:

ClinVar – all variants identified as ‘Pathogenic’ or ‘Likely Pathogenic’ by multiple submitters with no conflicting data (i.e. no reports of ‘Benign’, ‘Likely Benign’ or ‘Uncertain Significance’) for hypertrophic cardiomyopathy (HCM; n=158), dilated cardiomyopathy (DCM; n=16), long QT syndrome (LQTS; n=18), catecholaminergic polymorphic ventricular tachycardia (CPVT; n=1), Brugada syndrome (Brs; n=4) or arrhythmogenic right ventricular cardiomyopathy (ARVC; n=22) were extracted from the 20161201 release of ClinVar11 (link) using publically available scripts12 (link).

57 protein-altering variants in MYH7 that have been expertly curated by the ClinGen Inherited Cardiomyopathy expert panel (https://www.ncbi.nlm.nih.gov/clinvar/submitters/506161/).

A prospective dataset of 327 HCM cases and 625 healthy volunteers recruited to the NIHR Royal Brompton cardiovascular BRU, all phenotypically characterised using cardiac MRI. Samples were sequenced using the IlluminaTruSight Cardio Sequencing Kit1 (link) on the Illumina NextSeq platform. This study had ethical approval (REC: 09/H0504/104+5) and informed consent was obtained for all subjects.

Whiffin N., Walsh R., Govind R., Edwards M., Ahmad M., Zhang X., Tayal U., Buchan R., Midwinter W., Wilk A.E., Najgebauer H., Francis C., Wilkinson S., Monk T., Brett L., O'Regan D.P., Prasad S.K., Morris-Rosendahl D.J., Barton P.J., Edwards E., Ware J.S, & Cook S.A. (2018). CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation. Genetics in medicine : official journal of the American College of Medical Genetics, 20(10), 1246-1254.
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2

Genetic Variants Associated with HCM

Cited 1 time
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322 HCM patients and 852 healthy volunteers (both confirmed by cardiac MRI) recruited to the NIHR Royal Brompton cardiovascular BRU were sequenced using the IlluminaTruSight Cardio Sequencing Kit13 (link) on Illumina MiSeq and NextSeq platforms. This study had ethical approval (REC: 09/H0504/104+5) and informed consent was obtained for all subjects. The number of rare variants in the eight sarcomeric genes associated with HCM (MYBPC3, MYH7, TNNT2, TNNI3, MYL2, MYL3, TPM1 and ACTC1) were calculated for all protein altering variants (frameshift, nonsense, splice donor/acceptor, missense and in-frame insertions/deletions), with case/control odds ratios calculated separately for non-overlapping ExAC AF bins with the following breakpoints: 4x10−5, 1x10−4, 5x10−4 and 1x10−3. Odds Ratios were calculated as OR=(cases with variant/cases without variant)/(controls with variant/controls without variant).
Whiffin N., Minikel E., Walsh R., O’Donnell-Luria A.H., Karczewski K., Ing A.Y., Barton P.J., Funke B., Cook S.A., MacArthur D, & Ware J.S. (2017). Using high-resolution variant frequencies to empower clinical genome interpretation. Genetics in Medicine, 19(10), 1151-1158.
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3

Genetic Variants in Hypertrophic Cardiomyopathy

Cited 1 time
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A total of 322 HCM patients and 852 healthy volunteers (both confirmed by cardiac MRI) recruited to the NIHR Royal Brompton cardiovascular BRU were sequenced using the IlluminaTruSight Cardio Sequencing Kit13 (link) on Illumina MiSeq and NextSeq platforms. This study had ethical approval (REC: 09/H0504/104+5) and informed consent was obtained for all subjects. The number of rare variants in the eight sarcomeric genes associated with HCM (MYBPC3, MYH7, TNNT2, TNNI3, MYL2, MYL3, TPM1 and ACTC1) were calculated for all protein-altering variants (frameshift, nonsense, splice donor/acceptor, missense and in-frame insertions/deletions), with case/control odds ratios calculated separately for nonoverlapping ExAC AF bins with the following breakpoints: 4 × 10−5, 1 × 10−4, 5 × 10−4, and 1 × 10−3. Odds ratios were calculated as OR=(cases with variant/cases without variant)/(controls with variant/controls without variant).
Whiffin N., Minikel E., Walsh R., O’Donnell-Luria A.H., Karczewski K., Ing A.Y., Barton P.J., Funke B., Cook S.A., MacArthur D, & Ware J.S. (2017). Using high-resolution variant frequencies to empower clinical genome interpretation. Genetics in Medicine, 19(10), 1151-1158.
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