Author
Denise K. Driscoll
Bio: Denise K. Driscoll is an academic researcher from College of American Pathologists. The author has contributed to research in topics: Sanger sequencing. The author has an hindex of 1, co-authored 1 publications receiving 277 citations.
Topics: Sanger sequencing
Papers
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College of American Pathologists1, Harvard University2, University of Central Florida3, University of California, Los Angeles4, Emory University5, Cleveland Clinic6, University of Vermont7, Stanford University8, Washington University in St. Louis9, Mayo Clinic10, University of North Carolina at Chapel Hill11, University of Utah12
TL;DR: This report describes the important issues considered by the CAP committee during the development of the new checklist requirements, which address documentation, validation, quality assurance, confirmatory testing, exception logs, monitoring of upgrades, variant interpretation and reporting, incidental findings, data storage, version traceability and data transfer confidentiality.
Abstract: Context.— The higher throughput and lower per-base cost of next-generation sequencing (NGS) as compared to Sanger sequencing has led to its rapid adoption in clinical testing. The number of laborat...
304 citations
Cited by
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TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
17,834 citations
01 Jan 2014
TL;DR: Lymphedema is a common complication after treatment for breast cancer and factors associated with increased risk of lymphedEMA include extent of axillary surgery, axillary radiation, infection, and patient obesity.
1,988 citations
TL;DR: This review focuses on the application of untargeted metagenomic next-generation sequencing to the clinical diagnosis of infectious diseases, particularly in areas in which conventional diagnostic approaches have limitations.
Abstract: Nearly all infectious agents contain DNA or RNA genomes, making sequencing an attractive approach for pathogen detection. The cost of high-throughput or next-generation sequencing has been reduced ...
630 citations
Institut Gustave Roussy1, Hebron University2, Ludwig Maximilian University of Munich3, Erasmus University Rotterdam4, University of Verona5, Memorial Sloan Kettering Cancer Center6, University of Texas MD Anderson Cancer Center7, Harvard University8, University Hospital Heidelberg9, Université Paris-Saclay10, Paris Descartes University11, European Society for Medical Oncology12
TL;DR: ESMO recommends routine use of NGS on tumour samples in advanced non-squamous NSCLC, prostate cancers, ovarian cancers and cholangiocarcinoma, and develops multigene sequencing as a tool to screen patients eligible for clinical trials and to accelerate drug development.
535 citations
TL;DR: These guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe.
Abstract: We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients' representatives, and other stakeholders in the field of human genetics. The statements that were written during the elaboration of the guidelines are presented here. The background document and full guidelines are available as supplementary material. They include many examples to assist the laboratories in the implementation of NGS and accreditation of this service. The work and ideas presented by others in guidelines that have emerged elsewhere in the course of the past few years were also considered and are acknowledged in the full text. Interestingly, a few new insights that have not been cited before have emerged during the preparation of the guidelines. The most important new feature is the presentation of a 'rating system' for NGS-based diagnostic tests. The guidelines and statements have been applauded by the genetic diagnostic community, and thus seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe.
428 citations