Next-Generation Sequencing for Cancer Diagnostics: a Practical Perspective

作者: Richard W Tothill , Maria A Doyle , Cliff Meldrum

DOI:

关键词: Medical researchMultiple cancerDNA sequencingWhole genome sequencingComputational biologyReduced costCancerGenomeMedicineBioinformaticsBiological sciences

摘要: Next-generation sequencing (NGS) is arguably one of the most significant technological advances in biological sciences last 30 years. The second generation platforms have advanced rapidly to point that several genomes can now be sequenced simultaneously a single instrument run under two weeks. Targeted DNA enrichment methods allow even higher genome throughput at reduced cost per sample. Medical research has embraced technology and cancer field forefront these efforts given genetic aspects disease. World-wide catalogue mutations multiple types are underway this likely lead new discoveries will translated diagnostic, prognostic therapeutic targets. NGS maturing where it being considered by many laboratories for routine diagnostic use. sensitivity, speed sample make highly attractive platform compared other modalities. Moreover, as we identify more determinants there greater need adopt multi-gene assays quickly reliably sequence complete genes from individual patient samples. Whilst widespread use whole few years away, immediate opportunities implement clinical Here review technology, applications immediately some challenges lie ahead.

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