近日，美国约翰霍普金斯大学Michael C. Schatz等研究人员合作实现种群尺度结构变异比较与分析。该研究于2023年1月19日在线发表于国际一流学术期刊《自然—方法学》。

研究人员表示，长读的可用性正在彻底改变结构变异（SV）的研究。然而，由于SV因人而异，并且是通过不精确的读取技术和方法发现的，因此很难进行比较。

附：英文原文

Title: Jasmine and Iris: population-scale structural variant comparison and analysis

Author: Kirsche, Melanie, Prabhu, Gautam, Sherman, Rachel, Ni, Bohan, Battle, Alexis, Aganezov, Sergey, Schatz, Michael C.

Issue&Volume: 2023-01-19

Abstract: The availability of long reads is revolutionizing studies of structural variants (SVs). However, because SVs vary across individuals and are discovered through imprecise read technologies and methods, they can be difficult to compare. Addressing this, we present Jasmine and Iris (https://github.com/mkirsche/Jasmine/), for fast and accurate SV refinement, comparison and population analysis. Using an SV proximity graph, Jasmine outperforms six widely used comparison methods, including reducing the rate of Mendelian discordance in trio datasets by more than fivefold, and reveals a set of high-confidence de novo SVs confirmed by multiple technologies. We also present a unified callset of 122,813 SVs and 82,379 indels from 31 samples of diverse ancestry sequenced with long reads. We genotype these variants in 1,317 samples from the 1000 Genomes Project and the Genotype-Tissue Expression project with DNA and RNA-sequencing data and assess their widespread impact on gene expression, including within medically relevant genes.

DOI: 10.1038/s41592-022-01753-3

Source: https://www.nature.com/articles/s41592-022-01753-3