Sequencing Chr. 6 in Melanoma Patients

描述（由申请人提供）：在此，我们提出进一步开发和利用超高通量DNA测序技术来产生大量基因组序列，以鉴定和表征被诊断患有侵袭性黑色素瘤的人群中的基因组变异。具体来说，我们最终将对10个精心挑选的个体的6号染色体进行测序。作为一个定量的里程碑，我们将报告这十个人的6号染色体序列至少完成85%，组装准确率超过99.999%。在未来的R33提案中，我们将收集另外290人的序列。最终，我们将拥有一个强大的平台，用于生成高通量核酸序列，并将这些数据转换为遗传标记，以识别易患进行性恶性黑色素瘤的人。目前在实现我们的目标方面取得的进展已进入后期阶段。我们能够对细菌基因组进行常规测序，并且我们有可能在不到一个月的时间内产生足够的数据来快速测序一条覆盖率> 20倍的人类染色体。因此，我们认为我们以前的工作已经降低了大部分技术风险，并且通过追求这里描述的目标可以获得可观的回报。

DESCRIPTION (provided by applicant): Herein we propose to further develop and utilize an ultra-high throughput DNA sequencing technology to generate large amounts of genome sequence to identify and characterize genomic variation in a population of people diagnosed with invasive melanoma. Specifically, we will ultimately sequence chromosome 6 from ten carefully chosen individuals. As a quantitative milestone, we will report the sequence for chromosome 6 to at least 85% completion for these ten people at better than 99.999% assembled accuracy. In a future R33 proposal, we will collect sequence for 290 additional people. In the end, we will have a robust platform for generating high-throughput nucleic acid sequence and converting these data to genetic markers that identify people who are predisposed to progressive malignant melanoma. Current progress towards our goals is at an advanced stage. We are able to routinely sequence bacterial genomes and we have the potential to generate enough data to rapidly sequence a single human chromosome >20x coverage in less than a month. Therefore, we feel that much of the technical risk has been reduced by our previous work, and there are substantial rewards to be gained by pursuing the goals described here.