Focus
Focus on DNA Sequencing Technology
Performance gains and falling costs have fueled diverse applications of high-throughput DNA sequencing. This focus issue of Nature Biotechnology summarizes the current status of these technologies as applied to life sciences and medical research. Produced with support from Ion Torrent - by Life Technologies.
Editorial
DNA Sequencing Technology
Knocking on the clinic door - p1009
doi:10.1038/nbt.2428
High-throughput sequencing for clinical purposes faces technical and quality challenges, but it's worth it.
Abstract - | Full Text - Knocking on the clinic door | PDF (158 KB) - Knocking on the clinic door
News
Profile
DNA Sequencing Technology
The New York Genome Center - pp1021 - 1022
doi:10.1038/nbt.2429
Full Text - The New York Genome Center | PDF (153 KB) - The New York Genome Center
News Features
DNA Sequencing Technology
The battle for sequencing supremacy - pp1023 - 1026
Michael Eisenstein
doi:10.1038/nbt.2412
Which companies are leading the pack in terms of market share of the sequencing sector? Michael Eisenstein reports.
Abstract - | Full Text - The battle for sequencing supremacy | PDF (175 KB) - The battle for sequencing supremacy
DNA Sequencing Technology
Direct-to-consumer genomics reinvents itself - pp1027 - 1029
Malorye Allison
doi:10.1038/nbt.2409
By putting its foot in the door at the FDA, can 23andMe reinvigorate direct-to-consumer genomics? Malorye Allison investigates.
Abstract - | Full Text - Direct-to-consumer genomics reinvents itself | PDF (188 KB) - Direct-to-consumer genomics reinvents itself | Supplementary information
Opinion and Comment
Correspondence
DNA Sequencing Technology
Assuring the quality of next-generation sequencing in clinical laboratory practice - pp1033 - 1036
Amy S Gargis, Lisa Kalman, Meredith W Berry, David P Bick, David P Dimmock, Tina Hambuch, Fei Lu, Elaine Lyon, Karl V Voelkerding, Barbara A Zehnbauer, Richa Agarwala, Sarah F Bennett, Bin Chen, Ephrem L H Chin, John G Compton, Soma Das, Daniel H Farkas, Matthew J Ferber, Birgit H Funke, Manohar R Furtado, Lilia M Ganova-Raeva, Ute Geigenmüller, Sandra J Gunselman, Madhuri R Hegde, Philip L F Johnson, Andrew Kasarskis, Shashikant Kulkarni, Thomas Lenk, C S Jonathan Liu, Megan Manion, Teri A Manolio, Elaine R Mardis, Jason D Merker, Mangalathu S Rajeevan, Martin G Reese, Heidi L Rehm, Birgitte B Simen, Joanne M Yeakley, Justin M Zook & Ira M Lubin
doi:10.1038/nbt.2403
Full Text - Assuring the quality of next-generation sequencing in clinical laboratory practice | PDF (190 KB) - Assuring the quality of next-generation sequencing in clinical laboratory practice | Supplementary information
DNA Sequencing Technology
NGS analyses by visualization with Trackster - pp1036 - 1039
Jeremy Goecks, Nate Coraor, The Galaxy Team, Anton Nekrutenko & James Taylor
doi:10.1038/nbt.2404
Full Text - NGS analyses by visualization with Trackster | PDF (663 KB) - NGS analyses by visualization with Trackster | Supplementary information
DNA Sequencing Technology
Proteomics-directed cloning of circulating antiviral human monoclonal antibodies - pp1039 - 1043
Shuji Sato, Sean A Beausoleil, Lana Popova, Jason G Beaudet, Ravi K Ramenani, Xiaowu Zhang, James S Wieler, Sandra M Schieferl, Wan Cheung Cheung & Roberto D Polakiewicz
doi:10.1038/nbt.2406
Full Text - Proteomics-directed cloning of circulating antiviral human monoclonal antibodies | PDF (307 KB) - Proteomics-directed cloning of circulating antiviral human monoclonal antibodies | Supplementary information
DNA Sequencing Technology
Analyzing the association of SCNA boundaries with replication timing - pp1045 - 1046
Subhajyoti De & Franziska Michor
doi:10.1038/nbt.2414
Full Text - Analyzing the association of SCNA boundaries with replication timing | PDF (754 KB) - Analyzing the association of SCNA boundaries with replication timing
DNA Sequencing Technology
Analyzing the association of SCNA boundaries with replication timing - pp1043 - 1045
Sven Bilke & Yevgeniy Gindin
doi:10.1038/nbt.2415
Full Text - Analyzing the association of SCNA boundaries with replication timing | PDF (531 KB) - Analyzing the association of SCNA boundaries with replication timing
Feature
DNA Sequencing Technology
DNA goes to court - pp1047 - 1053
Caitlin Smith, Stephen Strauss & Laura DeFrancesco
doi:10.1038/nbt.2408
DNA profiling is playing a growing role in solving crimes, identifying victims of natural and unnatural disasters and even tracking diplomats. Some forensic experts are looking to advances in genome technologies to gain further ground against criminals.
Abstract - | Full Text - DNA goes to court | PDF (784 KB) - DNA goes to court
Patents
DNA Sequencing Technology
Advances in DNA sequencing lead to patent disputes - pp1054 - 1058
Christopher M Holman
doi:10.1038/nbt.2407
Will next-generation DNA sequencing technologies be hindered or helped by today's more aggressive patent acquisition and enforcement practices?
Abstract - | Full Text - Advances in DNA sequencing lead to patent disputes | PDF (180 KB) - Advances in DNA sequencing lead to patent disputes
DNA Sequencing Technology
Recent patent applications in sequencing - p1059
doi:10.1038/nbt.2426
Full Text - Recent patent applications in sequencing | PDF (45 KB) - Recent patent applications in sequencing
News and Views
DNA Sequencing Technology
The implications of ENCODE for diagnostics - pp1064 - 1065
Eugene Fratkin, Sivan Bercovici & Dietrich A Stephan
doi:10.1038/nbt.2418
Large-scale functional genomics data coupled with whole-genome sequencing will lead to improved diagnostic assays.
Full Text - The implications of ENCODE for diagnostics | PDF (159 KB) - The implications of ENCODE for diagnostics
DNA Sequencing Technology
Uniting ENCODE with genome-wide proteomics - pp1065 - 1067
Young-Ki Paik & William S Hancock
doi:10.1038/nbt.2416
An important goal of future omics research is to determine how the annotated regions of the genome control the production of protein isoforms.
Full Text - Uniting ENCODE with genome-wide proteomics | PDF (567 KB) - Uniting ENCODE with genome-wide proteomics
News and Views Feature
Focus on DNA Sequencing Technology
Genome sequencing in clinical microbiology - pp1068 - 1071
Jacqueline Z-M Chan, Mark J Pallen, Beryl Oppenheim & Chrystala Constantinidou
doi:10.1038/nbt.2410
High-throughput sequencing is being adopted to characterize microbial pathogens and track their evolution and spread.
Abstract - | Full Text - Genome sequencing in clinical microbiology | PDF (320 KB) - Genome sequencing in clinical microbiology
Computational Biology
Perspective
DNA Sequencing Technology
Protein structure prediction from sequence variation - pp1072 - 1080
Debora S Marks, Thomas A Hopf & Chris Sander
doi:10.1038/nbt.2419
Abstract - | Full Text - Protein structure prediction from sequence variation | PDF (1,260 KB) - Protein structure prediction from sequence variation
Q & A
DNA Sequencing Technology
Genome interpretation and assembly—recent progress and next steps - pp1081 - 1083
H. Craig Mak
doi:10.1038/nbt.2425
Ten experts discuss innovations needed to analyze the millions of genomes soon to be sequenced.
Abstract - | Full Text - Genome interpretation and assembly—recent progress and next steps | PDF (381 KB) - Genome interpretation and assembly—recent progress and next steps
Research
Perspective
DNA Sequencing Technology
Unlocking the potential of metagenomics through replicated experimental design - pp1084 - 1094
Knight, R.,
doi:10.1038/nbt.2235
Abstract - | Full Text - Unlocking the potential of metagenomics through replicated experimental design | PDF (1,160 KB) - Unlocking the potential of metagenomics through replicated experimental design
Reviews
DNA Sequencing Technology
The expanding scope of DNA sequencing - pp1084 - 1094
Jay Shendure & Erez Lieberman Aiden
doi:10.1038/nbt.2421
Abstract - | Full Text - The expanding scope of DNA sequencing | PDF (1,070 KB) - The expanding scope of DNA sequencing
DNA Sequencing Technology
Interpreting noncoding genetic variation in complex traits and human disease - pp1095 - 1106
Lucas D Ward & Manolis Kellis
doi:10.1038/nbt.2422
Abstract - | Full Text - Interpreting noncoding genetic variation in complex traits and human disease | PDF (1,074 KB) - Interpreting noncoding genetic variation in complex traits and human disease
DNA Sequencing Technology
Mapping recently identified nucleotide variants in the genome and transcriptome - pp1107 - 1116
Chun-Xiao Song, Chengqi Yi & Chuan He
doi:10.1038/nbt.2398
Abstract - | Full Text - Mapping recently identified nucleotide variants in the genome and transcriptome | PDF (1,197 KB) - Mapping recently identified nucleotide variants in the genome and transcriptome
DNA Sequencing Technology
Pharmacogenomics in clinical practice and drug development - pp1117 - 1124
Andrew R Harper & Eric J Topol
doi:10.1038/nbt.2424
Abstract - | Full Text - Pharmacogenomics in clinical practice and drug development | PDF (498 KB) - Pharmacogenomics in clinical practice and drug development