颜林林 (2022-07-07 07:41):
#paper doi:10.1186/s13059-022-02699-7 Genome Biology, 2022, Storing and analyzing a genome on a blockchain. 好几年前,我就听很多人说起,想把区块链技术用于基因组相关的应用,然而,后来各种结局惨淡,似乎都没了下文。在币圈跌跌不休一片哀嚎的最近,竟然《Genome Biology》上会发表出这么一篇文章,也真是神奇和亮眼。这篇来自耶鲁的文章,其全文和源码都是开放访问的,值得对区块链技术感兴趣的朋友仔细一读。文章设想了一个由测序仪、所有者、临床医生和研究人员组成的网络,每个人都参与同步 VCFchain 或 SAMchain,以此来形成分布式的数据共享,且数据分析过程也穿插在链的延伸过程中。在区块链有限的额外字节存储中,保存巨大的基因组数据,也确实需要一些技巧(如数据拆分和查询时的重新组合)加以实现,这篇文章也确实因此做了一些工作。但整体上还是有一种“为了区块链而区块链”的感觉。权限的管理和不容篡改可能是其特点和优势,但并未在文章中充分呈现,这与此前分享过的提及区块链技术的另外两篇文章有所不同(那两篇文章的DOI分别是:10.1038/s41591-022-01768-5 和 10.1038/s41586-021-03583-3,分别发表在 Nature Medicine 和 Nature,它们更多是AI算法及数据分享价值),而本文的重点还是在于区块链相关的程序实现细节。有这篇做铺垫,说不定类似文章后续真能冲击NBT呢。
IF:10.100Q1 Genome biology, 2022-06-29. DOI: 10.1186/s13059-022-02699-7 PMID: 35765079 PMCID:PMC9241283
Storing and analyzing a genome on a blockchain
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Abstract:
There are major efforts underway to make genome sequencing a routine part of clinical practice. A critical barrier to these is achieving practical solutions for data ownership and integrity. Blockchain provides solutions to these challenges in other realms, such as finance. However, its use in genomics is stymied due to the difficulty in storing large-scale data on-chain, slow transaction speeds, and limitations on querying. To overcome these roadblocks, we developed a private blockchain network to store genomic variants and reference-aligned reads on-chain. It uses nested database indexing with an accompanying tool suite to rapidly access and analyze the data.
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