tailieunhanh - Báo cáo y học: "Out of the sequencer and into the wiki as we face new challenges in genome informatics"

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: Out of the sequencer and into the wiki as we face new challenges in genome informatics. | Ning and Montgomery Genome Biology 2010 11 308 http 2010 11 10 308 w Genome Biology MEETING REPORT L Out of the sequencer and into the wiki as we face new challenges in genome informatics Zemin Ning1 and Stephen B Montgomery2 Abstract A report on the joint Cold Spring Harbor Laboratory Wellcome Trust Conference Genome Informatics 15-19 September 2010 Hinxton Cambridge UK. Next generation sequencing NGS analysis open-source software cloud computing and wiki-style genomics were among the hot topics and discussions at the recent Genome Informatics meeting at the Wellcome Trust Genome Campus Cambridge UK. Here we summarize some highlights of the meeting. Accuracy of polymorphism detection Comparison of related genomes can generate a wealth of knowledge about genome evolution and function. Recent advances in NGS technologies have greatly increased the scale and scope with which we can interrogate novel genomes and uncover genetic variation. However for variation detection and statistical analysis there are false positive errors for various reasons notably incompleteness of reference genomes read mapping errors or limitations and sequencing-induced features. Benjamin Dickins Penn State University University Park USA discussed an approach to estimate polymorphism accuracy from NGS data by deeply sequencing a small plasmid genome and comparing it with Sanger sequencing. Elliott Margulies National Human Genome Research Institute Bethesda USA gave an enticing presentation on this topic entitled Analysis of identical twins genomes reveals sources of false-positive variation detection . With 55X and 50X depth of read coverage from each twin s sample they initially identified 83 538 discordant genotype calls across of the human reference genome. Through inspection of a random set of discordantly Correspondence zn1@ Sequencing Informatics The Wellcome Trust Sanger Institute Hinxton Cambridge CB10 1SA UK Full list of author .