Whole-genome sequencing (WGS) is widely employed to diagnose rare [31,32,33,34,35] and undiagnosed diseases [36] and identify actionable cancer drivers and signatures. The different clinical applications and the type of analyses that are implicated in the diagnostics are shown in Fig.2. There ...
Whole-genome sequencing (WGS) holds promise as a tool for identifying all classes of genetic variation in a single experiment, which should enable the identification of the remainder of ASD risk genes. Our pilot research using WGS and thorough bioinformatics analyses to examine bothde novoand rare...
Whole-Genome Sequencing 来自 JAMA 喜欢 0 阅读量: 126 摘要: IMPORTANCE: Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of sequencing indication. OBJECTIVES: To examine coverage and concordance of clinically ...
We wonder if the notion of WGS needs clarification when used in discussions with patients. Although each donated DNA sample may have full genome sequencing, it is important for the clinician to explain that only specific segments of the genome, pertaining to the clinical phenotype, will be analyz...
Whole-genome sequencing (WGS) has shown promise in becoming a first-tier diagnostic test for patients with rare genetic disorders; however, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these
Microbial genome sequencing is now being routinely used in many clinical and public health laboratories. Understanding how to report complex genomic test results to stakeholders who may have varying familiarity with genomics—including clinicians, laboratorians, epidemiologists, and researchers—is critical ...
Benefits of Whole Genome Clinical Reports. Next Generation Sequencing (NGS) technology has become an invaluable method to support diagnosis of rare genetic conditions as well as to optimize an individual’s course of treatment for illness Whole genome sequencing (WGS) may be advantageous to whole ex...
Interpreting Whole-Genome Sequencing—Reply Frederick Dewey, MD; Euan Ashley, MRCP, DPhil; Thomas Quertermous, MD JAMA Abstract Importance Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of sequencing ...
[ Croucher NJ, Harris SR, Fraser C, et al. Rapid pneumococcal evolution in response to clinical interventions. Science, 2011, 331(6016): 430-434 ] 案例2:疟原虫基因组重测序 背景:疟原虫是人体疟疾的病原体,它严重危害到人类的健康。随着抗疟药物的广泛使用,疟原虫对几乎每一抗疟药都产生了抗性。
Angrist M, Jamal L. Living laboratory: whole-genome sequencing as a learning healthcare enterprise. Clin Genet 2015: 87: 311-318.M. Angrist, L. Jamal. (2014) Living laboratory: whole-genome sequencing as a learning healthcare enterprise. Clinical Genetics , n/a-n/a /...