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Current Genetic Medicine Reports
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172
Papers 181
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#1Claudia ManzoniH-Index: 22
#2Patrick A. LewisH-Index: 35
Last.Raffaele FerrariH-Index: 15
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#1Samer Hammoudeh (Hamad Medical Corporation)H-Index: 2
#2Wessam Gadelhak (Qatar Airways)
Last.Ibrahim Janahi (Qatar Airways)H-Index: 1
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Cystic fibrosis (CF) is a monogenic recessive disease with multisystem involvement. The cause is a mutation in the gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The aim is to review the literature involving the CFTR I1234V mutation and to provide recommendations for future research activities. The prevalence rates of CFTR mutations vary across the globe. The CFTR I1234V mutation is the most common mutation in Qatar, and one of the most common in the Ar...
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The usual abundance of fresh cells and high-quality DNA derived from bone marrow aspirate and peripheral blood mean haematological malignancies are at the forefront of the application of genomics to malignancy. This review evaluates where genomics is routinely used in clinical care and where opportunities for further application exist. The 2016 revision of the WHO classification of tumours of haematopoietic and lymphoid tissues increased the number of disease entities defined by, or whose diagno...
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#1Charalampos Xanthopoulos ('QUB': Queen's University Belfast)
#2Efterpi Kostareli ('QUB': Queen's University Belfast)H-Index: 10
Purpose of Review The development and progression of chronic lymphocytic leukemia (CLL), a highly heterogenous B cell malignancy, are influenced by both genetic and environmental factors. Environmental factors, including pharmacological interventions, can affect the epigenetic landscape of CLL and thereby determine the CLL phenotype, clonal evolution, and clinical outcome. In this review, we critically present the latest advances in the field of CLL epigenomics/epigenetics in order to provide a ...
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#1Diana L. Juvinao-Quintero (UoB: University of Bristol)
#2Marie-France Hivert (Harvard University)H-Index: 38
Last.Hannah R Elliott (UoB: University of Bristol)H-Index: 14
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Purpose of Review This review summarises recent advances in the field of epigenetics in order to understand the aetiology of type 2 diabetes (T2D).
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#1Eamonn R. Maher (University of Cambridge)H-Index: 105
#2Richard Sandford (University of Cambridge)H-Index: 31
Purpose of Review In this review, we discuss the key molecular and clinical developments in VHL disease that have the potential to impact on the natural history of the disease and improve patient outcomes.
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Purpose of Review Genetic test stewardship programs are increasingly common within hospital and reference laboratories, as are genetic test optimization efforts by individual practitioners. Genetic counselors play a critical role in guiding providers to medically appropriate genetic tests. This short review aims to summarize the impact of genetic counselors and targeted stewardship interventions that improve genetic test utilization.
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Purpose of Review We critically evaluate the future potential of machine learning (ML), deep learning (DL), and artificial intelligence (AI) in precision medicine. The goal of this work is to show progress in ML in digital health, to exemplify future needs and trends, and to identify any essential prerequisites of AI and ML for precision health.
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#2Kavitha A. Kolla (Georgetown University)
Last.Beth N. Peshkin (Georgetown University)H-Index: 38
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Purpose of Review The availability of multigene cancer panel testing (MCPT) has revolutionized the care of individuals and families at risk for hereditary cancer. This review discusses fundamental components of genetic counseling, test selection, result interpretation, and follow-up related to MCPT.
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Purpose of Review Biobank research brings together participants, their samples and data, and researchers to provide a productive and efficient resource that advances discovery, prevention, diagnosis, and treatment. This mini-review addresses the importance of governance issues regarding consent, privacy and confidentiality, data sharing, and return of results in biobanks that utilize genomic sequencing data.
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