如何在家对自己的 DNA 进行测序

我现在已经使用 Oxford Nanopore Technologies MinION 对自己的基因组进行了 5 次测序。这意味着从拭子中收集它们，准备进行测序，通过测序仪运行它们，然后对它们进行分析。脸颊细胞很容易进入并且补充得很快。它们不用于癌症诊断、炎症或身体其他部位被激活的基因（例如，如果您胸部有荨麻疹，并且想要测试发炎细胞中表达的基因），因为您需要收集有问题的细胞并将它们与这些细胞的其他正常版本进行比较。为了对细胞进行测序，我购买了实验室材料和消耗品，以便在家对自己的基因组进行测序。我花了大约两个月的时间才把所有的东西整合在一起，完成一次完整的端到端的高质量跑步。 Likewise, the costs are still out of reach for the average person but they are decreasing (exponentially!) and we will eventually have affordable technology, like a cell phone or AI, telling us about our DNA + RNA expression real-time.我什至可以用自己的基因组做什么？在我们真正花费所有时间和金钱进行测序之前，我们实际上可以用我们的基因组做什么？基因组本身并不神奇——它是参考层。 Once I have a VCF, I can run it through tools like VEP , ClinVar , gnomAD , PharmGKB (highly recommend), Gene Inspector , or Claude, and start asking: Which variants do I have?哪些基因和途径受到影响？哪些药物的代谢可能会有所不同？我应该认真对待哪些罕见变异？模型哪里还一无所知？最后一部分很重要——产生的信息还不是诊断级别的，而且绝对不是“因为人工智能是这么说的，所以用 CRISPR 编辑自己”。近期的价值是将静态基因组变成可查询的东西，但“用 CRISPR 编辑自己”很可能会随之而来。 DNA 是稳定的参考，RNA 是当前状态，我们最终将把所有生物传感器数据整合到你自己的一个“模型”中。 Here are a list of links and Twitter posts to help: Genetic variants from first principles: Adib @ ICML 🇰🇷 Adib @ ICML 🇰🇷 on Twitter / X TLDR these genes, and the combinations of them, compound into real physical diseases. We will probably map these in the next decade Pass your genome + RNA to any of these models: https://www.biotender.online/bio-model-install-guide/ Give your genome to Claude Code- message me if you want me to set this up for you Take it to a doctor if you metabolize particular drugs differently Patrick Collison post on using agents to talk to his genome Protocol Steps This is intended to be read by AI- please just copy and paste the URL of this and have ChatGPT walk you through it.如果您有 AR 眼镜，那就更好了，因为人工智能可以引导您完成整个协议。 Hardware Oxford Nanopore Technologies MinION ($7.5k) Laptop/workstation for MinKNOW (any PC should be fine) 100GB+ storage for outputs GPU for Dorado basecalling Vortex ($50) Heat block ($250) Centrifuge ($400 used on eBay) Consumables SQK-LSK114 Ligation Sequencing Kit V14 for DNA EXP-WSH004 Flow Cell Wash Kit EXP-CTL001 Control material PBS 1x Isohelix Buccal swabs Reagents DNA extraction kit NEB Monarch HMW DNA Extraction Kit for Cells & Blood ($87 for 5 runs) Nuclei Prep Buffer Nuclei Lysis Buffer RNase A Proteinase K Precipitation Enhancer DNA Capture Beads gDNA Wash Buffer Elution Buffer II Bead retainers / Monarch collection parts from kit DNA library-prep reagents NEBNext Companion Module v2 / repair-end prep reagents ($760 for 24 reactions) FFPE DNA Repair Buffer FFPE DNA Repair Mix Ultra II End-prep Reaction Buffer Ultra II End-prep Enzyme Mix NEBNext Quick T4 DNA Ligase Oxford Nanopore SQK-LSK114 ($720 for 6 reactions) Long Fragment Buffer / LFB Elution Buffer / EB Ligation Adapter / LA Ligation Buffer / LNB Sequencing Buffer / SB Library Beads / LIB Flow cell priming reagents Flow Cell Flush / FCF Flow Cell Tether / FCT BSA AMPure XP beads 80% ethanol Nuclease-free water ($32 for 25mL) DNA quantity measurement Qubit fluorometer Qubit dsDN