Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.

abstract：:The particular reasons for the relative lack in development of point-of-care (PoC) diagnostics in a business context were discussed in our sister journal, Expert Review of Medical Devices, over 2 years ago. At that time, it could be seen that the concept of PoC testing was being revisited for at least the fifth time i...

journal_title：Expert review of molecular diagnostics

authors： Huckle D

更新日期：2008-11-01 00:00:00

abstract：:Reverse-transcription PCR (RT-PCR) coupled with electrospray ionization mass spectrometry (ESI-MS) is a high-throughput nucleic acid-based technology that relies on the accurate measurement of the molecular weight of PCR amplicons that can be used to deduce the base counts (number of As, Gs, Cs and Ts) of DNA. These a...

journal_title：Expert review of molecular diagnostics

authors： Deyde VM,Sampath R,Gubareva LV

更新日期：2011-01-01 00:00:00

abstract：:High throughput gene sequencing is transforming the utilization of genomics in patient care by providing physicians with a powerful tool to aid the diagnosis and management of disease, particularly in precision oncology. As next-generation sequencing (NGS)-based diagnostic assays are developed, significant hurdles suc...

journal_title：Expert review of molecular diagnostics

authors： Kruglyak KM,Lin E,Ong FS

更新日期：2014-07-01 00:00:00

abstract：:Tumorigenesis is a multistep process resulting from DNA mutations observed at the DNA sequence and chromosome level as well as epigenetic changes, which affect expression of oncogenes and tumor suppressor genes. Breast cancer is a very heterogeneous disease that manifests in various histological and clinical types. De...

journal_title：Expert review of molecular diagnostics

authors： Wiechec E

更新日期：2011-05-01 00:00:00

abstract：:Herbal medicines including traditional Chinese medicine are becoming increasingly more popular worldwide. However, there is considerable potential for interaction between herbal components and drugs, as all herbal medicines contain a combination of potentially biologically active compounds possessing various inherent ...

journal_title：Expert review of molecular diagnostics

authors： Hu M,Fan L,Zhou HH,Tomlinson B

更新日期：2012-11-01 00:00:00

abstract：:Noninvasive tests for detecting genetic or molecular alterations in urine indicative of urothelial cancer are increasingly becoming the focus of urological cancer research. Since its approval by the US FDA in 2001, the fluorescence in situ hybridization test (Vysis UroVysion) has been widely evaluated. In general, pub...

journal_title：Expert review of molecular diagnostics

authors： Arentsen HC,de la Rosette JJ,de Reijke TM,Langbein S

更新日期：2007-01-01 00:00:00

abstract：INTRODUCTION:The antimicrobial aspect of management of patients with blood stream infections (BSI) and sepsis is time critical. In an era of increasing antimicrobial resistance, rapid detection and identification of bacteria with antimicrobial susceptibility is crucial to direct therapy early in the course of illness. ...

journal_title：Expert review of molecular diagnostics

authors： Poole S,Kidd SP,Saeed K

更新日期：2018-06-01 00:00:00

abstract：INTRODUCTION:The role of copy number variants (CNVs) in disease is now well established. In parallel NGS technologies, such as long-read technologies, there is continual development and data analysis methods continue to be refined. Clinical exome sequencing data is now a reality for many diagnostic laboratories in both...

journal_title：Expert review of molecular diagnostics

authors： Hehir-Kwa JY,Tops BBJ,Kemmeren P

更新日期：2018-10-01 00:00:00

abstract：:Existing and future diagnostic technologies are providing a huge amount of data about the patient, which are to be sensibly managed by the treating physician. More than that, the sheer complexity of the interrelation between these data are calling for a radically new approach in the handling of medical data and inform...

journal_title：Expert review of molecular diagnostics

authors： Fierz W

更新日期：2002-07-01 00:00:00

abstract：:Introduction: Osteoarthritis (OA) is a degenerative disease which primarily affects hyaline cartilage, leading to pain, stiffness and loss of mobility of the entire articulation. Diagnosis is commonly based on symptoms and radiographs, but there is a growing interest in detecting novel biomarkers, in serum, urine and ...

journal_title：Expert review of molecular diagnostics

authors： Ravalli S,Szychlinska MA,Lauretta G,Di Rosa M,Musumeci G

更新日期：2020-04-01 00:00:00

abstract：:For most diseases, better biomarkers are urgently needed to enable (early) detection, diagnosis, prognosis, stratification for therapy and response monitoring. Proteomics delineates gene products that carry out the majority of cellular functions, and thereby may not only yield insight into altered signaling pathways i...

journal_title：Expert review of molecular diagnostics

authors： Pham TV,Piersma SR,Oudgenoeg G,Jimenez CR

更新日期：2012-05-01 00:00:00

abstract：:The therapeutic management of patients with lupus nephritis (LN) remains a major challenge. The availability of biomarkers that accurately predict renal flares, response to immunosuppressive treatment and risk of progression to end-stage renal disease would allow the more effective use of currently available immunosup...

journal_title：Expert review of molecular diagnostics

authors： Edelbauer M,Ho J

更新日期：2011-07-01 00:00:00

abstract：INTRODUCTION:Tuberculosis (TB) is a leading killer worldwide. End TB strategy aims at ending the TB epidemic by 2030. Early, accurate, and affordable diagnosis represents a cornerstone to achieve this goal. Innovative strategies for TB diagnostics have been introduced. However, the ideal assay is yet unavailable and co...

journal_title：Expert review of molecular diagnostics

authors： El-Samadony H,Althani A,Tageldin MA,Azzazy HME

更新日期：2017-05-01 00:00:00

abstract：:Introduction: The last decade has seen massive efforts towards the identification and the potential use of predictive biomarkers for the pregnancy pathology preeclampsia. The angiogenic factors sFlt-1 and placental growth factor (PGF) have been in focus and have been massively supported. Areas covered: This review des...

journal_title：Expert review of molecular diagnostics

authors： Huppertz B

更新日期：2018-12-01 00:00:00

abstract：:Biomarkers complement clinical assessment, electrocardiogram and cardiac imaging in the diagnosis, risk stratification, triage and management of patients with suspected acute cardiovascular diseases. While there is broad consensus that cardiac troponin is the preferred biomarker in clinical practice for the detection ...

journal_title：Expert review of molecular diagnostics

authors： Rubini Gimenez M,Twerenbold R,Mueller C

更新日期：2015-04-01 00:00:00

abstract：:Early diagnosis of Alzheimer's disease is important in initiating symptomatic treatment with acetylcholine esterase inhibitors, and will be of even greater significance if drugs with a potential to slow down the degenerative process, such as beta-secretase inhibitors and beta-amyloid vaccination, prove to have a clini...

journal_title：Expert review of molecular diagnostics

authors： Blennow K

更新日期：2005-09-01 00:00:00

abstract：:Cancer becomes the second leading cause of death in the world. An effective strategy for early diagnosis of the disease is key to reduce the mortality and morbidity. Development of effective monoclonal antibody (mAb)-based assays or diagnostic imaging techniques for detection of antigens and small molecules that are r...

journal_title：Expert review of molecular diagnostics

authors： Zhang X,Soori G,Dobleman TJ,Xiao GG

更新日期：2014-01-01 00:00:00

abstract：:Acute pancreatitis has a mortality rate of 5-10%. Early deaths are mainly due to multiorgan failure and late deaths are due to septic complications from pancreatic necrosis. The recently described 2012 Revised Atlanta Classification and the Determinant Classification both provide a more accurate description of edemato...

journal_title：Expert review of molecular diagnostics

authors： Gomatos IP,Xiaodong X,Ghaneh P,Halloran C,Raraty M,Lane B,Sutton R,Neoptolemos JP

更新日期：2014-04-01 00:00:00

abstract：:Despite numerous technical hurdles, the realization of true personalized medicine is becoming a progressive reality for the future of patient care. With the development of new techniques and tools to measure the genetic signature of tumors, biomarkers are increasingly being used to detect occult tumors, determine the ...

journal_title：Expert review of molecular diagnostics

authors： Guzzetta AA,Pisanic Ii TR,Sharma P,Yi JM,Stark A,Wang TH,Ahuja N

更新日期：2014-09-01 00:00:00

abstract：:ST2, an IL-1 receptor family member with transmembrane (ST2L) and soluble (sST2) isoforms, was originally described in the context of inflammatory and autoimmune diseases. However, after the identification of IL-33 as the functional ligand for ST2, and conceptualization of the role of ST2/IL-33 signaling in cardiac re...

journal_title：Expert review of molecular diagnostics

authors： Bhardwaj A,Januzzi JL Jr

更新日期：2010-05-01 00:00:00

abstract：:Stroke is a multifactorial disease responsible for nearly 10% of deaths each year in industrialized countries. While some monogenic forms of stroke have been described, the vast majority result from the common polygenic form of the disease. Progress in molecular genetics has allowed the identification, through genome-...

journal_title：Expert review of molecular diagnostics

authors： Domingues-Montanari S,Mendioroz M,del Rio-Espinola A,Fernández-Cadenas I,Montaner J

更新日期：2008-07-01 00:00:00

abstract：:It is becoming increasingly clear that the herpes simplex viruses (HSVs) 1 and 2 constitute a major, global, public health problem, particularly as genital herpes is implicated in the causation of a significant percentage of onwards transmission of the HIV virus. A major factor in the transmission of HSV is that most ...

journal_title：Expert review of molecular diagnostics

authors： Ryan C,Kinghorn G

更新日期：2006-09-01 00:00:00

abstract：INTRODUCTION:Syphilis remains an important and preventable cause of stillbirth and neonatal mortality. About 1 million women with active syphilis become pregnant each year. Without treatment, 25% of them will deliver a stillborn baby and 33% a low birth weight baby with an increased chance of dying in the first month o...

journal_title：Expert review of molecular diagnostics

authors： Marks M,Mabey DC

更新日期：2017-04-01 00:00:00

abstract：:Introduction: The landscape of systemic treatment options for lung cancer has rapidly evolved with the emergence of immunomodulatory agents such as neutralizing antibodies targeting the programmed cell death protein 1 (PD-1) and its ligand (PD-L1). Another major breakthrough was the introduction of biomarkers, such as...

journal_title：Expert review of molecular diagnostics

authors： Michaelidou K,Agelaki S,Mavridis K

更新日期：2020-03-01 00:00:00

abstract：:Certain optical conditions permit the unaided eye to detect thickness changes on surfaces on the order of 20 A, which are of similar dimensions to monomolecular interactions between proteins or hybridization of complementary nucleic acid sequences. Such detection exploits specific interference of reflected white light...

journal_title：Expert review of molecular diagnostics

authors： Jenison RD,Bucala R,Maul D,Ward DC

更新日期：2006-01-01 00:00:00

abstract：:Lipoprotein-associated phospholipase (Lp-PL)A2 is a recently described and potentially useful plasma biomarker associated with cardiovascular disease. The enzyme, originally named platelet-activating factor acetylhydrolase (PAF-AH), has two prominent biological activities. First, it inactivates the prominent proinflam...

journal_title：Expert review of molecular diagnostics

authors： Carlquist JF,Muhlestein JB,Anderson JL

更新日期：2007-09-01 00:00:00

abstract：:Signal-encoded microparticles and nanoparticles have been used to label many reactions simultaneously for target identification in assays, and thus are an indispensable part of multiplex technologies. With the increasing demand for multiplexed molecular detection, encoded particles have evolved from pattern encoding t...

journal_title：Expert review of molecular diagnostics

authors： Li Y,Luo D

更新日期：2006-07-01 00:00:00

abstract：:Introduction: This review concerns biomarkers of blood activation and their measurement in plasma, as described in the literature up to 2019, and from our personal experience. How their measurement can be informative and useful, for research studies or for diagnostic applications, is presented and discussed.Areas cove...

journal_title：Expert review of molecular diagnostics

authors： Amiral J

更新日期：2020-01-01 00:00:00

abstract：:Introduction: Big Data technologies instilled an informational perspective to our understanding of the world. However, fundamental issues such as the management and storage of data can create privacy concerns. Heterogeneous types of data pose challenges in reproducibility and standardization. It is now an opportunity ...

journal_title：Expert review of molecular diagnostics

authors： Wong YKE,Lam KW,Ho KY,Yu CSA,Cho WC,Tsang HF,Chu MKM,Ng PWL,Tai CSW,Chan LWC,Wong EYL,Wong SCC

更新日期：2019-10-01 00:00:00

abstract：INTRODUCTION:Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired tha...

journal_title：Expert review of molecular diagnostics

authors： Sermon K

更新日期：2017-01-01 00:00:00