{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T18:52:15Z","timestamp":1791917535058,"version":"4.3.4"},"reference-count":325,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2017,1,31]],"date-time":"2017-01-31T00:00:00Z","timestamp":1485820800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Next-generation sequencing (NGS) technology has expanded in the last decades with significant improvements in the reliability, sequencing chemistry, pipeline analyses, data interpretation and costs. Such advances make the use of NGS feasible in clinical practice today. This review describes the recent technological developments in NGS applied to the field of oncology. A number of clinical applications are reviewed, i.e., mutation detection in inherited cancer syndromes based on DNA-sequencing, detection of spliceogenic variants based on RNA-sequencing, DNA-sequencing to identify risk modifiers and application for pre-implantation genetic diagnosis, cancer somatic mutation analysis, pharmacogenetics and liquid biopsy. Conclusive remarks, clinical limitations, implications and ethical considerations that relate to the different applications are provided.<\/jats:p>","DOI":"10.3390\/ijms18020308","type":"journal-article","created":{"date-parts":[[2017,1,31]],"date-time":"2017-01-31T10:30:44Z","timestamp":1485858644000},"page":"308","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":416,"title":["Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification"],"prefix":"10.3390","volume":"18","author":[{"given":"Rick","family":"Kamps","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics: GROW\u2014School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics: GROW\u2014School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca","family":"Bosch","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics: GROW\u2014School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimee","family":"Paulussen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics: GROW\u2014School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Xanthoulea","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics: GROW\u2014School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marinus","family":"Blok","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics: GROW\u2014School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5900-6883","authenticated-orcid":false,"given":"Andrea","family":"Romano","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics: GROW\u2014School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2017,1,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1146\/annurev.bioeng.3.1.195","article-title":"New DNA sequencing methods","volume":"3","author":"Marziali","year":"2001","journal-title":"Annu. 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