ArticleCold Spring Harbor molecular case studies2019
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Article in Cold Spring Harbor molecular case studies, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- The clinical utility of exome and genome sequencing across clinical indications: a systematic review.Human genetics · 2021Pooled it
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- Self-limited familial focal epilepsy caused by ANK2 variants: A potentially under-recognized condition.Epilepsia open · 2025Article
- The Unified Phenotype Ontology : a framework for cross-species integrative phenomics.Genetics · 2025Article
- A Mutation in the ANK2 Gene Causing ASD and a Review of the Literature.Molecular genetics & genomic medicine · 2025Review
- Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort.NPJ genomic medicine · 2025Article
- Roles of ANK2/ankyrin-B in neurodevelopmental disorders: Isoform functions and implications for autism spectrum disorder and epilepsy.Current opinion in neurobiology · 2025Review
- Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.Genetics research · 2025Article
- Article
- MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis.Current protocols · 2024Article
- Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.NPJ Parkinson's disease · 2023Article
- ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.Human molecular genetics · 2023Article
- The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3.Genes · 2023Article
- Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.Frontiers in oncology · 2023Review
- Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.Human mutation · 2022Review
- Best practices for the interpretation and reporting of clinical whole genome sequencing.NPJ genomic medicine · 2022Review
- Genetic etiology of hearing loss in Iran.Human genetics · 2022Review
- Review
- The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Case Report: Novel Biallelic Variants inFrontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Advancing the clinical utility of whole-exome sequencing (WES) for patients with suspected genetic disorders is largely driven by bioinformatics approaches that streamline data processing and analysis. Herein, we describe our experience with implementing a semiautomated and phenotype-driven WES diagnostic workflow, incorporating both the DRAGEN pipeline and the Exomiser variant prioritization tool, at an academic children's hospital with an ethnically diverse pediatric patient population. We achieved a 41% molecular diagnostic rate for 66 duo-, quad-, or trio-WES cases, and 28% for 40 singleton-WES cases. Preliminary results were returned to ordering physicians within 1 wk for 12 of 38 (32%) probands with positive findings, which were instrumental in guiding the appropriate clinical management for a variety of patients, especially in critical care settings. The semiautomated and streamlined WES workflow also enabled us to identify novel variants in candidate disease genes in patients with developmental delay and autism and immune disorders and cancer, including
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