本作品采用知识共享署名-相同方式共享 4.0 国际许可协议进行许可。
Human genomics is witnessing an ongoing paradigm shift from a single reference sequence to a pangenome form, but populations of Asian ancestry are underrepresented. Here we present data from the first phase of the Chinese Pangenome Consortium, including a collection of 116 high-quality and haplotype-phased de novo assemblies based on 58 core samples representing 36 minority Chinese ethnic groups. With an average 30.65× high-fidelity long-read sequence coverage, an average contiguity N50 of more than 35.63 megabases and an average total size of 3.01 gigabases, the CPC core assemblies add 189 million base pairs of euchromatic polymorphic sequences and 1,367 protein-coding gene duplications to GRCh38. We identified 15.9 million small variants and 78,072 structural variants, of which 5.9 million small variants and 34,223 structural variants were not reported in a recently released pangenome reference1. The Chinese Pangenome Consortium data demonstrate a remarkable increase in the discovery of novel and missing sequences when individuals are included from underrepresented minority ethnic groups. The missing reference sequences were enriched with archaic-derived alleles and genes that confer essential functions related to keratinization, response to ultraviolet radiation, DNA repair, immunological responses and lifespan, implying great potential for shedding new light on human evolution and recovering missing heritability in complex disease mapping.
艾跃进:过去的汉奸是亡国,现在的汉奸是灭种
在这些时候,我可以附和着笑,掌柜是决不责备的。而且掌柜见了孔乙己,也每每这样问他,引人发笑。孔乙己自己知道不能和他们谈天,便只好向孩子说话。有一回对我说道,“你读过书么?”我略略点一点头。他说,“读过书,……我便考你一考。茴香豆的茴字,怎样写的?”我想,讨饭一样的人,也配考我么?便回过脸去,不再理会。孔乙己等了许久,很恳切的说道,“不能写罢?……我教给你,记着!这些字应该记着。将来做掌柜的时候,写账要用。”我暗想我和掌柜的等级还很远呢,而且我们掌柜也从不将茴香豆上账;又好笑,又不耐烦,懒懒的答他道,“谁要你教,不是草头底下一个来回的回字么?”孔乙己显出极高兴的样子,将两个指头的长指甲敲着柜台,点头说,“对呀对呀!……回字有四样写法,你知道么?”我愈不耐烦了,努着嘴走远。孔乙己刚用指甲蘸了酒,想在柜上写字,见我毫不热心,便又叹一口气,显出极惋惜的样子。
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