PacBio Circular Consensus Sequencing (CCS) of the human male HG002/NA24385 with 15 kb and 20 kb inserts to support the development of benchmark standards for small and large variants, haplotype phasin

NIAID Data Ecosystem30

Ruler Arrays Reveal Haploid Genomic Structural Variation

基因组结构变异检测

基因单倍型分析

Despite the known relevance of genomic structural variants to pathogen behavior, cancer, development, and evolution, certain repeat based structural variants may evade detection by existing high-throu

NIAID Data Ecosystem20

Summary of all DNA sequence rearrangements identified.

基因组结构变异检测

基因组重测序分析

The table shows for each sample the number of read pairs in unusual configuration indicating putative DNA sequence rearrangements. Dashes (-) indicate that no read pairs supported a sequence rearrange

NIAID Data Ecosystem70

Affymetrix SNP and CNV data for the HuRef individual. Homo sapiens

基因组结构变异检测

拷贝数变异分析

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 nucleoti

NIAID Data Ecosystem30