TY - JOUR
AU - 
AB - Downloaded from genesdev.cshlp.org on November 17, 2021 - Published by Cold Spring Harbor Laboratory Press PERSPECTIVE Personal genome sequencing: current approaches and challenges 1,5 2 2,3,4 Michael Snyder, Jiang Du, and Mark Gerstein 1 2 Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA; Department of Computer Science, Yale University, New Haven, Connecticut 06520, USA; Department of Molecular Biochemistry and Biophysics, Yale University, New Haven, Connecticut 06520, USA; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA The revolution in DNA sequencing technologies has now constitutes a genome sequence, what one wishes to made it feasible to determine the genome sequences of learn from that genome sequence, and what is the best many individuals; i.e., ‘‘personal genomes.’’ Genome se- approach to go about obtaining it. quences of cells and tissues from both normal and disease states have been determined. Using current approaches, What does it currently mean to sequence an individual whole human genome sequences are not typically as- human genome? sembled and determined de novo, but, instead, variations relative to a reference sequence are identified. We discuss Existing high-throughput DNA sequencing technologies the current state of personal genome sequencing, the main 
TI - Personal genome sequencing: current approaches and challenges
JF - Genes & Development
DO - 10.1101/gad.1864110
DA - 2010-03-01
UR - https://www.deepdyve.com/lp/unpaywall/personal-genome-sequencing-current-approaches-and-challenges-C2aFDJyBOq
DP - DeepDyve
ER -