David Bick1, David Dimmock. 1. Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. dbick@mcw.edu
Abstract
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.
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.
Authors: Jennifer M Taber; William M P Klein; Rebecca A Ferrer; Katie L Lewis; Leslie G Biesecker; Barbara B Biesecker Journal: Health Psychol Date: 2014-10-13 Impact factor: 4.267
Authors: Amanda L Bergner; Juli Bollinger; Karen S Raraigh; Crystal Tichnell; Brittney Murray; Carrie Lynn Blout; Aida Bytyci Telegrafi; Cynthia A James Journal: Am J Med Genet A Date: 2014-09-22 Impact factor: 2.802
Authors: Cynthia M Khan; Christine Rini; Barbara A Bernhardt; J Scott Roberts; Kurt D Christensen; James P Evans; Kyle B Brothers; Myra I Roche; Jonathan S Berg; Gail E Henderson Journal: J Genet Couns Date: 2014-12-09 Impact factor: 2.537
Authors: Seema M Jamal; Joon-Ho Yu; Jessica X Chong; Karin M Dent; Jessie H Conta; Holly K Tabor; Michael J Bamshad Journal: Am J Med Genet A Date: 2013-05 Impact factor: 2.802
Authors: Lesley M Arnold; Jinbo Fan; I Jon Russell; Muhammad B Yunus; Muhammad Asim Khan; Irving Kushner; Jane M Olson; Sudha K Iyengar Journal: Arthritis Rheum Date: 2013-04