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: Comparison of solution-based exome capture methods for next generation sequencing. | X Genome Biology Comparison of solution-based exome capture methods for next generation sequencing Sulonen et al. Sulonen et al. Genome Biology 2011 12 R94 http 2011 12 9 R94 28 September 2011 BioMed Central Sulonen et al. Genome Biology 2011 12 R94 http 2011 12 9 R94 Genome Biology RESEARCH Open Access Comparison of solution-based exome capture methods for next generation sequencing Anna-Maija Sulonen1 2 Pekka Ellonen1 Henrikki Almusa1 Maija Lepisto1 Samuli Eldfors1 Sari Hannula1 I I V V I S ft 1 I o I o 1 I I o s I A r rvn s 3 D rt-t- II c -s I z 1 2 V r I I I_I r r 1 I_I Z AỈ I I Ỉ I r ri II I4 I s z II D 1 z I z 5 6 Timo Miettinen Henna Tyynismaa Perttu Salo Caroline Heckman Heikki Joensuu Taneli Raivio Anu Suomalainen3 and Janna Saarela1 Abstract Background Techniques enabling targeted re-sequencing of the protein coding sequences of the human genome on next generation sequencing instruments are of great interest. We conducted a systematic comparison of the solution-based exome capture kits provided by Agilent and Roche NimbleGen. A control DNA sample was captured with all four capture methods and prepared for Illumina GAII sequencing. Sequence data from additional samples prepared with the same protocols were also used in the comparison. Results We developed a bioinformatics pipeline for quality control short read alignment variant identification and annotation of the sequence data. In our analysis a larger percentage of the high quality reads from the NimbleGen captures than from the Agilent captures aligned to the capture target regions. High GC content of the target sequence was associated with poor capture success in all exome enrichment methods. Comparison of mean allele balances for heterozygous variants indicated a tendency to have more reference bases than variant bases in the heterozygous variant positions within the target regions in all methods. There was virtually no difference in the genotype concordance .
