Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells

Recent advances in whole-genome sequencing have brought the vision of personal genomics and genomic medicine closer to reality. However, current methods lack clinical accuracy and the ability to describe the context (haplotypes) in which genome variants co-occur in a cost-effective manner. Here we describe a low-cost DNA sequencing and haplotyping process, long fragment read (LFR) technology, which is similar to sequencing long single DNA molecules without cloning or separation of metaphase chromosomes. In this study, ten LFR libraries were made using only ～100?picograms of human DNA per sample. Up to 97% of the heterozygous single nucleotide variants were assembled into long haplotype contigs. Removal of false positive single nucleotide variants not phased by multiple LFR haplotypes resulted in a final genome error rate of 1 in 10?megabases. Cost-effective and accurate genome sequencing and haplotyping from 10-20 human cells, as demonstrated here, will enable comprehensive genetic studies and diverse clinical applications.     

云：影响气候变化的一个重要因素

在哲学中谈论的是观念和物质,在神学中谈论的是善与恶。如果两重性的概念——两种不可改变的和相反的原则——在大气科学中占有任何位置的话,它可以在形形色色的和并非一成不变的云的形态中发现。云的两重属性可以通过气候系统表现出来,在这个系统中,它同时对地球进行加热和冷却。没有任何东西会比凝聚的或结晶的水蒸汽更奇异。云既影响以太阳光的形式射来的短波辐射,又影响由地球表面返回到太空中去的长波辐射。但是,这两类辐射却受到截然不