Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries. | Fisher et al. Genome Biology 2011 12 R1 http 2011 12 1 R1 Genome Biology METHOD Open Access A sealable fully automated process for construction of sequenee-ready human exome targeted eapture libraries 1 1 1 1 1 1 f 1 Sheila Fisher Andrew Barry Justin Abreu Brian Minie Jillian Nolan Toni M Delorey Geneva Young 11 12 3 3 Timothy J Fennell Alexander Allen Lauren Ambrogio Aaron M Berlin Brendan Blumenstiel Kristian Cibulskis 1 14 1 11 2 Dennis Friedrich Ryan Johnson Frank Juhn Brian Reilly Ramy Shammas John Stalker Sean M Sykes 1 1 1 14 2 1 2 Jon Thompson John Walsh Andrew Zimmer Zac Zwirko Stacey Gabriel Robert Nicol Chad Nusbaum Abstract Genome targeting methods enable cost-effective capture of specific subsets of the genome for sequencing. We present here an automated highly scalable method for carrying out the Solution Hybrid Selection capture approach that provides a dramatic increase in scale and throughput of sequence-ready libraries produced. Significant process improvements and a series of in-process quality control checkpoints are also added. These process improvements can also be used in a manual version of the protocol. Background The cost of DNA sequencing continues to fall driven by ongoing innovation in sequencing technology 1-4 . As a result it has recently become feasible to sequence nontrivial numbers of whole human genomes 3 5-10 . Many more such projects are planned and commercial genome sequencing services are now becoming available 11 12 . At the same time there is growing interest in sequencing specific portions of genomes and several affordable methods for sample preparation of targeted regions have been recently published 13-17 . Key applications for targeted approaches include sequencing of exons or sets of protein-coding genes implicated in specific diseases 18-21 whole human exome sequencing for example in cancer or disease cohorts 22-24 reviewed in 25 and resequencing of specific regions as a follow-up to genome-wide .
