Low-depth rare DNA variant detection via sequence-selective and quantitative amplification

NIAID Data Ecosystem2026-03-12 收录

稀有变异检测

突变富集分析

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA767049 数据链接链接失效反馈

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资源简介：

Mutation enrichment and profiling using QBDA technology

创建时间：

2021-09-28

Supplementary Material for: Does Accounting for Gene-Environment Interactions Help Uncover Association between Rare Variants and Complex Diseases?

基因-环境交互作用

稀有变异检测

Objective: To determine whether accounting for gene-environment (G×E) interactions improves the power to detect associations between rare variants and a disease, we have extended three s

DataCite Commons2020-09-02 更新120

EGAS00001000460-sc-20140312 - samples

群体基因组学

稀有变异检测

This study includes whole-genome sequencing data (at 4x depth) of 100 individuals from an Italian genetic isolate population (Carlantino, abbreviated CARL) of the Italian Network of Genetic Isolates (

NIAID Data Ecosystem60

P-values for sequence kernel association test (SKAT) for CYP1B1, ERCC2, GSTM1, and RAD23B, by mutation type.

基因变异关联分析

稀有变异检测

P-values for sequence kernel association test (SKAT) for CYP1B1, ERCC2, GSTM1, and RAD23B, by mutation type.

NIAID Data Ecosystem20

Efficient and Cost Effective Population Resequencing by Pooling and In-Solution Hybridization

群体靶向重测序

稀有变异检测

High-throughput sequencing of targeted genomic loci in large populations is an effective approach for evaluating the contribution of rare variants to disease risk. We evaluated the feasibility of usin

NIAID Data Ecosystem70

Additional file 7: of High-specificity detection of rare alleles with Paired-End Low Error Sequencing (PELE-Seq)

稀有变异检测

种系变异分析

SNP results from PELE-sequencing of wild and lab-adapted C. remanei populations. Rare SNPs in the wild and lab-adapted C. remanei populations were detected with PELE-Seq at 2000Ă OPE read depth. Alle

Figshare2016-12-14 更新30

Low-depth rare DNA variant detection via sequence-selective and quantitative amplification

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