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Whole exome and whole genome sequencing

2011; Lippincott Williams & Wilkins; Volume: 23; Issue: 6 Linguagem: Inglês

10.1097/mop.0b013e32834b20ec

1531-698X

David Bick, David Dimmock,

Genetic factors in colorectal cancer

Purpose of review 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. Recent findings 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. Summary 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.