Abstract：
:The costs and efforts for sample preparation of hundreds of individuals, their genomic enrichment for regions of interest, and sufficient deep sequencing bring a significant burden to next-generation sequencing-based experiments. We investigated whether pooling of samples at the level of genomic DNA would be a more versatile strategy for lowering the costs and efforts for common disease-associated rare variant detection in candidate genes or associated loci in a substantial patient cohort. We performed a pilot experiment using five pools of 20 abdominal aortic aneurysm (AAA) patients that were enriched on separate microarrays for the reported 9p21.3 associated locus and 42 additional AAA candidate genes, and sequenced on the SOLiD platform. Here, we discuss challenges and limitations connected to this approach and show that the high number of novel variants detected per pool and allele frequency deviations to the usually highly false positive cut-off region for variant detection in non-pooled samples can be limiting factors for successful variant prioritization and confirmation. We conclude that barcode indexing of individual samples before pooling followed by a multiplexed enrichment strategy should be preferred for detection of rare genetic variants in larger sample sets rather than a genomic DNA pooling strategy.
journal_name
J Cardiovasc Transl Resjournal_title
Journal of cardiovascular translational researchauthors
Harakalova M,Nijman IJ,Medic J,Mokry M,Renkens I,Blankensteijn JD,Kloosterman W,Baas AF,Cuppen Edoi
10.1007/s12265-011-9263-5subject
Has Abstractpub_date
2011-06-01 00:00:00pages
271-80issue
3eissn
1937-5387issn
1937-5395journal_volume
4pub_type
杂志文章,多中心研究abstract：:It has been previously demonstrated that ticagrelor can reduce mortality compared to clopidogrel in acute coronary syndrome (ACS) patients. However, the mechanism for this mortality reduction remains uncertain. The objective of the present study is to assess the impact of chronic ticagrelor treatment on microvascular ...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-017-9783-8
更新日期：2018-02-01 00:00:00
abstract：:The implantation of ventricular assist devices (VADs) is a valuable option in patients with end-stage heart failure. The number of VAD implantations is growing worldwide. Between July 1987 and July 2010, we implanted 1,598 VADs in 1,455 patients. The majority were male (81.0%), and their mean age was 49.4 years (range...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-011-9268-0
更新日期：2011-06-01 00:00:00
abstract：:The potency of specific transcription factors as cell fate determinants was first demonstrated by the discovery of MyoD, a master gene for skeletal muscle transdifferentiation. More recently, the induction of pluripotency in somatic cells using a combination of stem cell-specific transcription factors has been reporte...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-012-9412-5
更新日期：2013-02-01 00:00:00
abstract：:Both Type 1 and Type 2 diabetes can lead to debilitating microvascular complications such as retinopathy, nephropathy and neuropathy, as well as macrovascular complications such as cardiovascular diseases including atherosclerosis and hypertension. Diabetic complications have been attributed to several contributing fa...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-012-9368-5
更新日期：2012-08-01 00:00:00
abstract：:A number of genetic variants have been identified in the lipoprotein lipase (LPL) gene. We aimed to investigate the possible associations between LPL gene and apolipoprotein C3 (APOC3) gene polymorphisms with coronary artery disease (CAD) and its severity, as well as the interaction between these polymorphisms and cla...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-013-9446-3
更新日期：2013-06-01 00:00:00
abstract：:Cardiac cell therapy has emerged as a controversial yet promising therapeutic strategy. Both experimental data and clinical applications in this field have shown modest but tangible benefits on cardiac structure and function and underscore that transplanted stem-progenitor cells can attenuate the postinfarct microenvi...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-010-9198-2
更新日期：2010-12-01 00:00:00
abstract：:CD147, a member of the immunoglobulin super family, is a well-known potent inducer of extracellular matrix metalloproteinases. Studies show that CD147 is upregulated in inflammatory diseases. Atherosclerosis is a chronic inflammatory disease of the artery wall. Further understanding of the functions of CD147 in athero...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-015-9608-6
更新日期：2015-02-01 00:00:00
abstract：:The second messengers, cAMP and cGMP, regulate a number of physiological processes in the myocardium, from acute contraction/relaxation to chronic gene expression and cardiac structural remodeling. Emerging evidence suggests that multiple spatiotemporally distinct pools of cyclic nucleotides can discriminate specific ...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-010-9203-9
更新日期：2010-10-01 00:00:00
abstract：:Recently, a new surgical technique to rescue infarcted myocardium (AGTP) has already tested (NCT01473433, AdiFLAP Trial). Here, we present the new minimally invasive AGTP (mi-AGTP) by thoracoscopy. ...
journal_title：Journal of cardiovascular translational research
pub_type： 信件
doi：10.1007/s12265-016-9721-1
更新日期：2017-02-01 00:00:00
abstract：:Cardiac rehabilitation (CR) following myocardial infarction is vastly underused. As such, the aim of this study was to test a digital health intervention (DHI) as an adjunct to CR. Patients undergoing standard Mayo Clinic CR were recruited prior to CR (n = 25) or after 3 months CR (n = 17). Changes in risk factors and...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-015-9629-1
更新日期：2015-07-01 00:00:00
abstract：:MicroRNAs are widely expressed, approximately 22-nucleotide-long non-protein-coding RNAs. They are first transcribed as much longer primary transcripts, which then undergo a series of processing steps to yield the single-stranded, mature microRNAs. Like other classes of RNAs in a cell, the biogenesis of microRNAs is u...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-010-9166-x
更新日期：2010-06-01 00:00:00
abstract：:Chronic inflammation drives the development of atherosclerosis. Despite optimal treatment of classical cardiovascular risk factors, a substantial portion of the population has elevated inflammatory biomarkers and develops atherosclerosis-related complications, indicating that a residual inflammatory risk drives athero...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-020-09994-3
更新日期：2020-03-28 00:00:00
abstract：:Infusion catheters, when used in combination with balloons, are subjected to pressure created by inflation of the balloon. The compression can reduce the catheter flow area and cause elevated shear stresses in the fluid. A model and experiments were developed with a range of applied balloon pressures to investigate wh...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-014-9595-z
更新日期：2014-12-01 00:00:00
abstract：:Non-invasive means of evaluating appropriate cardiac unloading remain to be established. We hypothesized that myocardial deformation assessed by echocardiographic speckle-tracking strain analysis can reliably estimate the degree of left ventricular (LV) unloading under mechanical circulatory support. A total of 24 Yor...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-018-9812-2
更新日期：2019-04-01 00:00:00
abstract：:Cardiovascular disease is the leading cause of death in men and women in the USA; yet, coronary artery disease (CAD) continues to be underrecognized and underdiagnosed in women. Noninvasive and invasive imaging techniques are constantly being developed in order to more accurately assess CAD. At the same time, the impa...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-013-9500-1
更新日期：2013-10-01 00:00:00
abstract：:Plasma ceramides (Cer), a subset of bioactive lipids, have mechanistic links to development of atherosclerosis and are related to major adverse cardiovascular events (MACEs). Previous researches have demonstrated vulnerable plaques contribute to acute cardiovascular events and poor prognosis. This study aimed to explo...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-020-09978-3
更新日期：2020-03-24 00:00:00
abstract：:This retrospective observational study aimed to establish the first prescription and its dispensation (primary adherence) in the first 30 days of the four pharmacotherapeutic classes recommended after a type 1 STEMI episode, determine the potential risk factors for lack of primary adherence, and evaluate the potential...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-020-10045-0
更新日期：2020-06-15 00:00:00
abstract：:The joint European Society of Cardiology and European Association of Cardio-Thoracic Surgery (ESC/EACTS) guidelines on myocardial revascularization collect and summarize the evidence regarding decision-making, diagnostics, and therapeutics in various clinical scenarios of coronary artery disease, including elective, u...
journal_title：Journal of cardiovascular translational research
pub_type： 历史文章,杂志文章,实务指引,评审
doi：10.1007/s12265-015-9632-6
更新日期：2015-06-01 00:00:00
abstract：:Variability of response to clopidogrel and prasugrel is a multifactorial process, with clinical consequences, and drug-drug interactions have been proposed as potential factors. Biological modulation of clopidogrel response has been demonstrated for atorvastatin and omeprazole. However, investigations assessing clinic...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-012-9442-z
更新日期：2013-06-01 00:00:00
abstract：:The administration of the selective β3 adrenergic receptor (β3AR) agonist BRL-37344 protects from myocardial ischemia/reperfusion injury (IRI), although the lack of clinical approval limits its translatability. We tested the cardioprotective effect of mirabegron, the first-in-class β3AR agonist approved for human use....
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-018-9819-8
更新日期：2018-08-01 00:00:00
abstract：:Fibroblasts play a major role in normal cardiac physiology and in the response of the heart to injury and disease. Cardiac electrophysiological research has primarily focused on the mechanisms of remodeling that accompany cardiac disease with an emphasis on myocyte electrophysiology. Recently, there has been increasin...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-012-9408-1
更新日期：2012-12-01 00:00:00
abstract：:The authors of this study protocol would like to amend it and clarify that medication adherence was assessed using the 4-item validated Morisky, Green, Levine scale [Morisky DE, Green LW, Levine DM. Concurrent and predictive validity of a self-reported measure of medication adherence. Med Care. 1986 Jan;24(1):67-74] r...
journal_title：Journal of cardiovascular translational research
pub_type： 已发布勘误
doi：10.1007/s12265-019-09870-9
更新日期：2020-02-01 00:00:00
abstract：:The M protein of rheumatogenic group A streptococci induces carditis and valvulitis in Lewis rats and may play a role in pathogenesis of rheumatic heart disease. To identify the epitopes of M5 protein that produce valvulitis, synthetic peptides spanning A, B, and C repeat regions contained within the extracellular dom...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-013-9526-4
更新日期：2014-03-01 00:00:00
abstract：:Proper atrioventricular canal (AVC) patterning and subsequent valvulogenesis is a complex process, and defects can result in disease or early death. The zebrafish Danio rerio has become a useful model system for studying AVC development, and much progress has been made in dissecting out the critical steps. Here, we re...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-011-9313-z
更新日期：2011-12-01 00:00:00
abstract：:Different arrhythmogenic substrates for atrial fibrillation (AF) may underlie aortic valve (AV) and mitral valve (MV) disease. We located conduction disorders during sinus rhythm by high-resolution epicardial mapping in patients undergoing AV (n = 85) or MV (n = 54) surgery. Extent and distribution of conduction delay...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-019-09936-8
更新日期：2020-08-01 00:00:00
abstract：:Carpal tunnel syndrome (CTS) is a common finding among patients with cardiac amyloidosis. We sought to determine the prevalence of cardiac amyloidosis in patients who had undergone CTS surgery. From 2005 to 2014, 308 patients ≥ 60 years underwent CTS surgery. Of these, 233 (76%) agreed to participate in the study and ...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-019-09895-0
更新日期：2019-12-01 00:00:00
abstract：:Using unipolar atrial electrogram morphology as guidance for ablative therapy is regaining interest. Although standardly used in clinical practice during ablative therapy, the impact of filter settings on morphology of unipolar AF potentials is unknown. Thirty different filters were applied to 2,557,045 high-resolutio...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-020-10011-w
更新日期：2020-12-01 00:00:00
abstract：:This study aimed to analyze the relationship between cardiac autonomic modulation (CAM) and cardiovascular parameters (blood pressure and resting heart rate) in a sample of 256 adults, grouped by body mass index and sufficient moderate-to-vigorous physical activity (≥150 min/week). The sample showed different cardiova...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-021-10101-3
更新日期：2021-01-22 00:00:00
abstract：:The hemodynamic, mechanical and electrical effects of cardiac resynchronization therapy (CRT) occur immediate and are lasting as long as CRT is delivered. Therefore, it is reasonable to assume that acute hemodynamic effects should predict long-term outcome. However, in the literature there is more evidence against tha...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-011-9331-x
更新日期：2012-04-01 00:00:00
abstract：:Microvascular injury is present in a large proportion of patients with ST-elevation myocardial infarction (STEMI) despite successful revascularization. Ticagrelor potentially mitigates this process by exerting additional adenosine-mediated effects. This study aims to determine whether ticagrelor is associated with a b...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,随机对照试验
doi：10.1007/s12265-016-9691-3
更新日期：2016-06-01 00:00:00
