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Additional file 3 of High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

NIAID Data Ecosystem2026-05-02 收录

遗传病诊断

拷贝数变异

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https://figshare.com/articles/dataset/Additional_file_3_of_High_positive_predictive_value_of_CNVs_detected_by_clinical_exome_sequencing_in_suspected_genetic_diseases/26747282 数据链接链接失效反馈

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资源简介：

Supplementary Material 3.

应用场景：

创建时间：

2024-07-09

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 Ecosystem90

Additional file 8: Table S6. of Pathological classification of human iPSC-derived neural stem/progenitor cells towards safety assessment of transplantation therapy for CNS diseases

神经干细胞

拷贝数变异

De novo copy number variations (CNVs) identified in the 1201C1 iPSC-derived NSPCs. (XLSX 35Â kb)

DataCite Commons2024-12-17 更新70

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

Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans [Agilent021365]. Homo sapiens

拷贝数变异

微阵列平台

Background: High-resolution microarray technology is routinely used in basic research and clinical practice to efficiently detect copy number variants (CNVs) across the entire human genome. A new gene

NIAID Data Ecosystem70

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

遗传病诊断

近亲遗传病共发概率

Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseas

NIAID Data Ecosystem60

Additional file 3 of High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

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