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Recommendations for whole genome sequencing in diagnostics for rare diseases.
Eur J Hum Genet
September 2022
Radboud university medical center, Department of Human Genetics, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions.
View Article and Find Full Text PDFNGS-Based genetic testing for heritable cardiovascular diseases. Specific requirements for obtaining informed consent.
Mol Cell Probes
June 2019
Amedes Genetics, Georgstraße 50, Hannover, Germany.
Clinical genetic testing in cardiovascular genetic medicine has undergone rapid changes. Next generation sequencing allows simultaneous testing of all genes associated with any cardiovascular phenotype, and molecular genetic testing for multiple genes has become the standard of practice for cardiovascular medicine. While technical and clinical advantages of multigenic approaches are evident, informed consent procedures have become more complex and challenging to the physician ordering such a test, particularly due to the increased potential for unsolicited findings.
View Article and Find Full Text PDFConsensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.
Med Clin (Barc)
July 2018
Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, L'Hospitalet del Llobregat, Barcelona, Spain. Electronic address:
Genetic diagnosis of hereditary cancer syndromes offers the opportunity to establish more effective predictive and preventive measures for the patient and their families. The ultimate objective is to decrease cancer morbidity and mortality in high genetic risk families. Next Generation Sequencing (NGS) offers an important improvement in the efficiency of genetic diagnosis, allowing an increase in diagnostic yield with a substantial reduction in response times and economic costs.
View Article and Find Full Text PDFNew EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing.
Eur J Hum Genet
January 2016
Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Guidelines for diagnostic next-generation sequencing.
Eur J Hum Genet
January 2016
University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.
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.
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