Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center studydoi:10.1186/s12887-024-04820-0Genetic disordersNeonatal intensive care unitNeonatesWhole-exome sequencingGenetic disorders significantly affect patients in neonatal intensive care units...
This test requires specific paperwork in order to proceed with testing. To avoid testing delays, fill out and submitWhole Exome Sequencing: Ordering Checklist. One form should be submitted for the family. For family member specimens being sent as comparators, orderCMPRE / Family Member Comparator...
“Variants of unknown significance can be difficult for providers to interpret, and may lengthen the diagnostic odyssey for patients,” said Christine Eng, MD, Chief Medical Officer and Chief Quality Officer at Baylor Genetics. “...
Genet Med advance online publication 3 December 2015 INTRODUCTION Whole-exome sequencing (WES) has been used increasingly in clinical diagnostics for a variety of indications to identify the underlying genetic cause of disease. Although single-gene test- ing and gene panels are still often used ...
sequencing (WGS) is becoming the preferred method for genetic analysis over alternative methods such as panel and exome sequencing. Firstly, WGS detects more variants not only in the large noncoding parts of the genome but also in exons due to a superior mapping quality [31,36,37]. Secondly...
To prospectively evaluate the diagnostic and clinical utility of singleton whole-exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease. Singleton WES was performed as a first-tier sequencing test in infants recruited fro
Whole genome sequencing (WGS) and exome sequencing are rapidly being incorporated as routine components of diagnosis and explanation of rare disorders, and the trend is moving toward utilization of these for risk assessment for common diseases as well [1, 2]. Each month, novel mutations (either...
The global whole genome and exome sequencing market, initially valued at $1.87 billion in 2023, is poised for substantial growth, projected to reach $7.46 billion by 2033, marking a remarkable compound annual growth ...
Diagnostic clinical genome and exome sequencing. N Engl J Med 2014;370:2418–2425. 11. Wenger AM, Guturu H, Bernstein JA & Bejerano G. Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. Genet Med 2017;19:209–214. 12. Kircher M, Witten ...
Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 2014;312:1880–1887. 12. Thevenon J, Duffourd Y, Masurel-Paulet A, et al. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin...