Copy Number Variation using Affymetrix Optima Array

NIAID Data Ecosystem2026-03-13 收录

拷贝数变异

自闭症谱系障碍遗传

数据链接：

https://www.omicsdi.org/dataset/ega/EGAS00001006439 数据链接链接失效反馈

官方服务：

资源简介：

Diagnostic yield of affymetrix optima microarray in patients with non-syndromic autism spectrum disorders in India.EGA study EGAS00001006439

创建时间：

2022-07-26

A comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants (GenomeWideSNP_6). Homo sapiens

拷贝数变异

基因芯片平台评估

Systematic evaluation of eleven array platforms commonly used for CNV detection to address parameters of quality and CNV calling. Overall design: 36 Samples

NIAID Data Ecosystem60

VMR for genes with different duplication states. Shown is the average VMR for the whole genome, unique genes, segmental duplicated genes and tandem duplicated genes.

基因重复分析

拷贝数变异

VMR for genes with different duplication states. Shown is the average VMR for the whole genome, unique genes, segmental duplicated genes and tandem duplicated genes.

NIAID Data Ecosystem60

Additional file 1: Table S1. of Assessing the reproducibility of exome copy number variations predictions

基因组学

拷贝数变异

Lists all the IDs used in this study. Table S2 gives details of independent dataset analysis. Tables S3 and S4 give details of size and capture analyses. Table S5 lists ClinSeqÂŽ CNVs identified from

Mendeley Data2024-06-27 更新50

Somatic CNV profile of congenital ectopic thyroids

甲状腺功能异常

拷贝数变异

To assess whether specific genes have relevant somatic genetic or epigenetic alterations in ectopic tissue, we used a combined analysis of transcriptome (confirmed by qRT-PCR on 68 genes), methylome,

NIAID Data Ecosystem60

UK10K NEURO ASD GALLAGHER

自闭症谱系障碍遗传

变异关联分析

In the UK10K project we propose a series of complementary genetic approaches to find new low frequency/rare variants contributing to disease phenotypes. These will be based on obtaining the genome wid

NIAID Data Ecosystem50

Copy Number Variation using Affymetrix Optima Array

资源简介：

相关数据集