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Simulation Datasets for Evaluation

Figshare2019-03-24 更新2026-04-29 收录

循环肿瘤DNA

结构变异检测

数据链接：

https://figshare.com/articles/dataset/Simulation_Datasets_for_Evaluation/5758539 数据链接链接失效反馈

官方服务：

资源简介：

Simulation datasets used for performance evaluation in SViCT (Structural Variant detrction in Circulating Tumor DNA).

应用场景：

创建时间：

2019-03-24

基因分析

结构变异检测

SV detection at Gpr143 and Htr2b gene loci using Sniffles2. Sniffles analysis was performed for our assembly and Ensembl assembly using PacBio raw reads. Gene IDs were assigned by BRAKER3 for our asse

DataCite Commons2025-08-06 更新80

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

结构变异检测

基因型分组

We whole genome sequence 2 patients with congenital abnormalities and known complex de novo chromosomal rearrangements using the Nanopore MinION. We show how we can detect most previoulsy detected de

NIAID Data Ecosystem50

COLO829 SV benchmark (v2)

结构变异检测

基因组基准测试

Files used to create a new Structural Variant (SV) benchmark colo the cell line COLO829 in reference genome coordinates GRCh38 and CHM13-T2T

Zenodo2024-01-01 更新40

The relevance of the genome reference to resolve rare and pathogenic inversions

结构变异检测

基因组参考评估

To compare and contrast the necessity to explore mapping long-read genome sequencing data to the recently published Telomere-to-Telomere (T2T) reference genome for detection of rare and pathogenic inv

NIAID Data Ecosystem60

Additional file 12 of Real-world experience with circulating tumor DNA in cerebrospinal fluid from patients with central nervous system tumors

肿瘤液体活检

循环肿瘤DNA

Supplementary Material 12. Additional file 2: Glioma cohort with tissue and CSF disease-relevant genomic comparisons.

NIAID Data Ecosystem40