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Prioritization of synonymous variants based on their predicted functional impact.

Figshare2023-01-23 更新2026-04-28 收录

数据链接：

https://figshare.com/articles/dataset/Prioritization_of_synonymous_variants_based_on_their_predicted_functional_impact_/21942100 数据链接链接失效反馈

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Prioritization of synonymous variants based on their predicted functional impact.

应用场景：

创建时间：

2023-01-23

基因组变异优先级排序

基因型-表型关联错误检测

An r-script containing the “Tv_threshold” function for Tv cut-off calculation and the “flag_probability” function to calculate the probability that variants occur at least with a frequency f in the da

NIAID Data Ecosystem30

Additional file 6: of NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans

非编码变异致病性

基因组变异优先级排序

Table S5. Prioritization of 37 non-coding pathogenic variants and their associated 37 internal control negative common variants spiked in within 100 individual genomes. (XLSX 17 kb)

Figshare2019-02-12 更新10

Variant prioritisation heatmap plots

基因组变异优先级排序

遗传变异可视化

The folder contains the different heatmaps originating from the variant prioritization analysis in both .jpeg and .html file. The latter are interactive. Moreover, the individuals genotype table origi

Figshare2022-09-15 更新00

Eigen scores for human genome assembly GRCh37 Part 2 (Chr4 - Chr8)

变异功能注释

基因组变异优先级排序

Eigen is a spectral approach to the functional annotation of genetic variants in coding and noncoding regions. Eigen makes use of a variety of functional annotations in both coding and noncoding regio

Zenodo2023-05-09 更新10

Eigen scores for human genome assembly GRCh38 Part 3 (Chr3 - Chr5)

变异功能注释

基因组变异优先级排序

Zenodo2023-05-09 更新00