ArticlePloS one2011
Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 41 citations in OpenAlex.
- Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.International journal of molecular sciences · 2026Article
- Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.Scientific reports · 2022Article
- Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing.Familial cancer · 2018Article
- High-frequency, low-coverage "false positives" mutations may be true in GS Junior sequencing studies.Scientific reports · 2017Article
- Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.Medical sciences (Basel, Switzerland) · 2017Article
- High-throughput PCR assay design for targeted resequencing using primerXL.BMC bioinformatics · 2017Article
- A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.Scientific reports · 2017Article
- Review
- Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2015Article
- Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.The Journal of investigative dermatology · 2015Article
- Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.Sultan Qaboos University medical journal · 2015Article
- New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.Molecular vision · 2015Article
- Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.European journal of human genetics : EJHG · 2014Article
- A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.Molecular genetics & genomic medicine · 2014Article
- Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.BioMed research international · 2014Article
- Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.European journal of human genetics : EJHG · 2013Article
- Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.BMC genetics · 2013Article
- Genetic Association of Peptidoglycan Recognition Protein Variants with Inflammatory Bowel Disease.PloS one · 2013Article
- Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.Molecular vision · 2013Article
- Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.BMC medical genomics · 2012Article
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite improvements in terms of sequence quality and price per basepair, Sanger sequencing remains restricted to screening of individual disease genes. The development of massively parallel sequencing (MPS) technologies heralded an era in which molecular diagnostics for multigenic disorders becomes reality. Here, we outline different PCR amplification based strategies for the screening of a multitude of genes in a patient cohort. We performed a thorough evaluation in terms of set-up, coverage and sequencing variants on the data of 10 GS-FLX experiments (over 200 patients). Crucially, we determined the actual coverage that is required for reliable diagnostic results using MPS, and provide a tool to calculate the number of patients that can be screened in a single run. Finally, we provide an overview of factors contributing to false negative or false positive mutation calls and suggest ways to maximize sensitivity and specificity, both important in a routine setting. By describing practical strategies for screening of multigenic disorders in a multitude of samples and providing answers to questions about minimum required coverage, the number of patients that can be screened in a single run and the factors that may affect sensitivity and specificity we hope to facilitate the implementation of MPS technology in molecular diagnostics.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.