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[ 源代码: sideretro  ]

软件包:sideretro(1.1.6-2)

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pipeline for detecting Somatic Insertion of DE novo RETROcopies

sideRETRO is a bioinformatics tool designed for the detection of somatic retrocopy insertions, also known as retroCNVs, in whole genome sequencing (WGS) and whole exome sequencing (WES) data.

Retrocopies, also known as processed pseudogenes, are sequences derived from protein-coding genes, generated by the duplication of these genes through the transposition of their mature messenger RNA via the LINE-1 enzymatic machinery. Retrocopies can be fixed, meaning they are present in all genomes of a given species (including the species' reference genome), or unfixed (polymorphic, germline, or somatic), in which case they are referred to as retroCNVs. While fixed retrocopies have received considerable attention in the scientific community, knowledge of retroCNVs remains limited, largely due to the lack of specialized bioinformatics tools for their identification and annotation in DNA sequencing data.

sideRETRO is a dedicated computational algorithm that detects retrocopies absent from the reference genome but present in WGS and WES data from other individuals. In addition to identifying retroCNVs, sideRETRO annotates several characteristics associated with these events. It provides information on the genomic coordinates of the insertion, including chromosome, insertion point, and DNA strand. It also determines the genomic context of the event (exonic, intronic, or intergenic), performs genotyping (presence or absence), and provides haplotyping information (homozygous or heterozygous).

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下载可用于所有硬件架构的
硬件架构 软件包大小 安装后大小 文件
alpha (非官方移植版) 84.3 kB246.0 kB [文件列表]
amd64 88.4 kB232.0 kB [文件列表]
arm64 90.2 kB245.0 kB [文件列表]
armel 80.8 kB243.0 kB [文件列表]
armhf 79.4 kB179.0 kB [文件列表]
i386 93.1 kB247.0 kB [文件列表]
m68k (非官方移植版) 79.7 kB211.0 kB [文件列表]
ppc64el 92.5 kB309.0 kB [文件列表]
riscv64 96.6 kB217.0 kB [文件列表]
sh4 (非官方移植版) 91.3 kB243.0 kB [文件列表]
x32 (非官方移植版) 89.2 kB223.0 kB [文件列表]