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SCSIM: Jointly simulating correlated single-cell and bulk next-generation DNA sequencing data

机译:SCSIM:联合模拟相关的单细胞和大量下一代DNA测序数据

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摘要

Simulation software is important for developing and improving statistical methodology for next-generation sequencing data [ ]. There are currently 149 such genetic data simulators indexed by the National Cancer Institute [ ], and four of these simulators produce DNA sequencing reads with single-nucleotide variants: GemSIM [ ], NEAT [ ], SInC [ ], and CuReSim [ ]. Huang et al. [ ] proposed one of the first next-generation sequencing (NGS) simulators, but this simulator only generates bulk sequencing data. Gourlé et. al. [ ] developed a simulator specifically for metagenomic sequencing experiments. In the past year, two novel simulators for NGS DNA sequencing data have been proposed. One tool incorporates human population genetic information to simulate structural variation and different types of nucleotide variants [ ]. Another tool aims to simulate data from single-cells incorporating allelic dropout, but not false positives or different types of nucleotide variants [ ].
机译:仿真软件对于开发和改进下一代测序数据的统计方法很重要[]。美国国家癌症研究所[]目前索引有149个这样的遗传数据模拟器,其中四个模拟器产生具有单核苷酸变异的DNA测序读数:GemSIM [],NEAT [],SInC []和CuReSim []。黄等。 []提出了第一个下一代测序(NGS)仿真器之一,但该仿真器仅生成批量测序数据。 Gourlé等。等[]开发了专门用于宏基因组测序实验的模拟器。在过去的一年中,已经提出了两种新颖的NGS DNA测序数据模拟器。一种工具结合了人类群体的遗传信息,以模拟结构变异和不同类型的核苷酸变异[]。另一工具旨在模拟来自包含等位基因缺失的单细胞的数据,而不是假阳性或不同类型的核苷酸变体[]。

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