ArticleJournal of visualized experiments : JoVE2018
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.
Article in Journal of visualized experiments : JoVE, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.BMC medical genomics · 2020Trial
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- Homocysteine, neurodegenerative biomarkers, and APOE ε4 in neurodegenerative diseases.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- SomaticCells · 2024Article
- From haystack to high precision: advanced sequencing methods to unraveling circulating tumor DNA mutations.Frontiers in molecular biosciences · 2024Review
- First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.Pediatric pulmonology · 2023Article
- Targeted copy number variant identification across the neurodegenerative disease spectrum.Molecular genetics & genomic medicine · 2022Article
- Application of Next Generation Sequencing for Diagnosis and Clinical Management of Drug-Resistant Tuberculosis: Updates on Recent Developments in the Field.Frontiers in microbiology · 2022Review
- Article
- Contribution of rare variant associations to neurodegenerative disease presentation.NPJ genomic medicine · 2021Article
- Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.Frontiers in immunology · 2021Article
- Detection of Structural Variants in Circulating Cell-Free DNA from Sarcoma Patients Using Next Generation Sequencing.Cancers · 2020Article
- A novel next generation sequencing approach to improve sarcoma diagnosis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets.Brain : a journal of neurology · 2019Article
- Severe Combined Dyslipidemia With a Complex Genetic Basis.Journal of investigative medicine high impact case reportsArticle
- Abetalipoproteinemia Due to a Novel Splicing Variant inJournal of investigative medicine high impact case reportsArticle
- A De NovoJournal of investigative medicine high impact case reportsArticle
Corrections and comments
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Authors and funding
23 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next-generation sequencing (NGS) is quickly revolutionizing how research into the genetic determinants of constitutional disease is performed. The technique is highly efficient with millions of sequencing reads being produced in a short time span and at relatively low cost. Specifically, targeted NGS is able to focus investigations to genomic regions of particular interest based on the disease of study. Not only does this further reduce costs and increase the speed of the process, but it lessens the computational burden that often accompanies NGS. Although targeted NGS is restricted to certain regions of the genome, preventing identification of potential novel loci of interest, it can be an excellent technique when faced with a phenotypically and genetically heterogeneous disease, for which there are previously known genetic associations. Because of the complex nature of the sequencing technique, it is important to closely adhere to protocols and methodologies in order to achieve sequencing reads of high coverage and quality. Further, once sequencing reads are obtained, a sophisticated bioinformatics workflow is utilized to accurately map reads to a reference genome, to call variants, and to ensure the variants pass quality metrics. Variants must also be annotated and curated based on their clinical significance, which can be standardized by applying the American College of Medical Genetics and Genomics Pathogenicity Guidelines. The methods presented herein will display the steps involved in generating and analyzing NGS data from a targeted sequencing panel, using the ONDRISeq neurodegenerative disease panel as a model, to identify variants that may be of clinical significance.
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