Whole exome and whole genome sequencing
- 1 December 2011
- journal article
- review article
- Published by Ovid Technologies (Wolters Kluwer Health) in Current Opinion in Pediatrics
- Vol. 23 (6), 594-600
- https://doi.org/10.1097/mop.0b013e32834b20ec
Abstract
The purpose of this review is to describe the new DNA sequencing technologies referred to as next-generation sequencing (NGS). These new methods are becoming central to research in human disease and are starting to be used in routine clinical care. Advances in instrumentation have dramatically reduced the cost of DNA sequencing. An individual's entire genome can now be sequenced for $7500. In addition, the software needed to analyze and help interpret this data is rapidly improving. This technology has been used by researchers to discover new genetic disorders and new disease associations. In the clinic, it can define the etiology in patients with undiagnosed genetic disorders and identify mutations in a cancer to help guide chemotherapy. Here we discuss how whole-exome sequencing and whole-genome sequencing are used in basic research and clinical care. These new techniques promise to speed research and affect how healthcare is delivered.Keywords
This publication has 66 references indexed in Scilit:
- Evaluation of next-generation sequencing software in mapping and assemblyJournal of Human Genetics, 2011
- The impact of next-generation sequencing on genomicsJournal of Genetics and Genomics, 2011
- Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseGenetics in Medicine, 2011
- Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnosticsGenetics in Medicine, 2011
- The 2011 Nucleic Acids Research Database Issue and the online Molecular Biology Database CollectionNucleic Acids Research, 2010
- Exome sequencing: the sweet spot before whole genomesHuman Molecular Genetics, 2010
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007Genetics in Medicine, 2008
- Next-Generation Sequencing: The Race Is OnCell, 2008
- DNA sequencing with chain-terminating inhibitorsProceedings of the National Academy of Sciences, 1977
- A new method for sequencing DNA.Proceedings of the National Academy of Sciences of the United States of America, 1977