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Exome and genome sequencing (ES/GS) are performed frequently in patients with congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the impact of results from ES/GS on clinical management and patient outcomes is not well characterized. A systematic evidence review (SER) can support future evidence-based guideline development for use of ES/GS in this patient population.
This article was published in the following journal.
Name: Genetics in medicine : official journal of the American College of Medical Genetics
Idiopathic dilated cardiomyopathy (DCM) is an important etiology of mortality and morbidity in dogs and its diagnosis relies on systolic dysfunction, chambers dilation, electrical instability and cong...
Systematic reviews are regarded as the cornerstone of evidence-based decision making across many disciplines. The teaching of systematic review methods is thus very important, yet it is a field that s...
There is growing interest in providing palliative care (PC) in the emergency department (ED), but relatively little is known about the efficacy of ED-based PC interventions. A 2016 systematic review o...
Complementary and Alternative Medicines (CAM) are widely used by cancer patients, despite limited evidence of efficacy. Manipulative and body-based practices are some of the most commonly used CAM. Th...
The purpose of this pilot study is to determine the feasibility of running a full-scale trial that compares two formats of a shortened systematic review to a full-length systematic review ...
This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do pop...
Despite advances in the conduct and reporting of traditional systematic reviews, current evidence suggests that they are used infrequently by health care managers and policy makers in deci...
The natural history of patients with PA-AMV has not been systematically studied before and there is no published data in the literature about this condition since 1980. There is no evidenc...
The management of cancers and their therapeutic guidance was until shortly mostly based on histopathological considerations of the tumor. the development of targeted therapies is a turning...
An approach or process of practicing oral health care that requires the judicious integration of systematic assessments of clinical relevant scientific evidence, relating to the patient's oral and medical condition and history, with the dentist's clinical expertise and the patient's treatment needs and preferences. (from J Am Dent Assoc 134: 689, 2003)
An approach, process, or methodology which emphasizes credible evidence and the best available scientific knowledge, judiciously integrated to achieve the best possible outcomes in structural design. For example, the design of a new OUTPATIENT CLINIC might incorporate a review of published research on outpatient clinic design, decisions on similar past projects, along with interviews with staff and consumers.
That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.
Published materials which provide an examination of recent or current literature. Review articles can cover a wide range of subject matter at various levels of completeness and comprehensiveness based on analyses of literature that may include research findings. The review may reflect the state of the art. It also includes reviews as a literary form.
The systematic study of the complete DNA sequences (GENOME) of organisms.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...