Structural variants (SVs) are genomic rearrangements that involve at least 50 nucleotides and are known to have a serious impact on human health. While prior short-read sequencing technologies have of

NIAID Data Ecosystem30

Agilent custom 244K array CGH data for the HuRef individual

基因组结构变异检测

比较基因组杂交分析

The ideal genome sequence for medical interpretation is complete and diploid, capturing the full spectrum of genetic variation. Toward this end, there has been progress in discovery of single nucleot

NIAID Data Ecosystem50

Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing

拷贝数变异分析

基因组结构变异检测

Copy number variants (CNVs) are a major source of genetic variation in human health and disease. Previous studies have suggested replication stress, such as that caused by the polymerase inhibitor ap

NIAID Data Ecosystem30

SMRT sequencing of 1000 Genomes Trios for SV Discovery.. SMRT sequencing of 1000 Genomes Trios for SV Discovery.

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