WES and WGS have been proposed for use in patients presenting with disorders and anomalies that have not been explained by standard clinical workup. Findings  Keywords: One out of 13 patients with IEOS from the US cohort was molecularly diagnosed. As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. After ES data processing and variant interpretation, we detected molecular diagnostic variants in 92 out of 447 (20.6%) Chinese patients with EOS, including 8 patients with molecular confirmation of their clinical diagnosis and 84 patients with molecular diagnoses of previously unrecognised diseases underlying scoliosis. In addition, three provisional diagnoses were made. Design, Setting, and Participants  All Rights Reserved, 2021;325(5):467-475. doi:10.1001/jama.2020.26148. The age at presentation, the number of organ systems involved and the Cobb angle were the three top features predictive of a molecular diagnosis. What is the molecular diagnostic yield of exome sequencing (prevalence of pathogenic and likely pathogenic variants) among patients with cerebral palsy? The Baylor study found that beginning with RNA sequencing could increase the diagnostic yield 17% from the traditional exome and genome sequencing … Exome sequencing with copy number variant detection. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) J Med Genet. To determine the molecular diagnostic yield of exome sequencing (prevalence of pathogenic and likely pathogenic variants) in individuals with cerebral palsy. JAMA. 4.1.1. Bhatia et al 2 further showed that using whole exome and whole genome sequencing (WGS) led to a diagnostic yield of 38% and 33%, respectively, in their Asian cohort. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. Its clinical utility has been proven in epileptic encephalopathies and in mixed epilepsy cohorts (2–11); and in neurodevelopmental disorders (12–14) i… 1 , 2 10.1111/cge.13848 [Europe PMC free article] [Google Scholar] Go Hun Seo, Taeho Kim, and In Hee Choi contributed equally to this work. In a sample of patients with undiagnosed, suspected genetic conditions, a certain type of exome sequencing method was associated with a higher molecular diagnostic yield … to download free article PDFs, (NEJM, 2020) examined the diagnostic yield of exome sequencing for single-gene disorders in unexplained NIHF METHODS: Case-series Participants Consecutive unexplained cases of NIHF Definition of NIHF: Following findings alone or in combination … 2020 Oct;8(10):e1453. Detect SNVs, indels and CNVs in a single test. Our diagnostic rate is within the range of 21–32%, seen in several studies of diagnostic yield for exome sequencing performed on fetal samples (Drury et al., 2015; Fu et al., 2018; Normand et al., 2018; Daum et al., 2019), and close to a diagnostic rate of 36.7% from exome sequencing of 278 infants in an intensive care unit (Meng et al., 2017). This new, automated variant interpretation system facilitated the diagnosis of various genetic diseases with a 42.7% diagnostic yield. As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Whole exome sequencing (WES) sequences the portion of the genome that contains protein-coding DNA, while whole genome sequencing (WGS) sequences both coding and noncoding regions of the genome. BACKGROUND AND PURPOSE: Single-gene disorders are included in the differential for nonimmune hydrops fetalis (NIHF) Sparks et al. 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