OneSeq Constitutional Research Panel
基因套數變異及 SNP 分析
Building upon SureSelect’s ability to enable the success of constitutional and advanced clinical research, OneSeq allows for the combined detection of CNVs and SNPs, facilitating cytogeneticists and clinical researchers to make rapid discoveries of new genes associated with syndromes, and to investigate the role of CNVs and mutations in many genetic disordersWhen compared to deep whole genome sequencing, OneSeq provides a more cost-effective and efficient solution for accurate detection of genomic aberrations and variants coupled with integrated data analysis using Agilent's SureCall software.Powered by SureSelect, optimized for use with SureSelectXT Reagent Kits (200ng DNA Sample Input).
產品資訊
Congenital structural malformation and developmentaldisorders, including intellectual disability, autism,and attention deficit hyperactivity disorder (ADHD),are neuropsychiatric disorders that manifest in earlychildhood as deviations from the normal development. Inthe past 5 years, major advances have been made in theidentification of specific genetic causes of these disorders.The methods used in previous studies include mainlykaryotyping and fluorescence in situ hybridization (FISH)for fusion genes, aCGH for copy number changes, anddirect sequencing and PCR for gene mutations. AlthoughWGS has the potential to offer a single platform solutionfor determining the full range of abnormalities fromsingle gene mutations to aneuploidy, the current cost andturnaround time of deep coverage WGS prevent it frombeing implemented in high-throughput clinical researchlaboratories. With targeted sequencing, only a subset ofgenes or defined genomic regions are sequenced, allowingtime, expenses, and data storage to be focused on theregions of the genome of interest. However, it has not beenpossible to perform a genome-wide survey of copy numberchanges with targeted sequencing.
The OneSeq targetenrichment kits are designed so that genome-wide copynumber changes, cnLOH, indels, and targeted mutationscan be simultaneously determined. New algorithms havebeen implemented in Agilent SureCall Software v3.0 toallow for the streamlined analysis of OneSeq data.
產品列表
| 貨號 | 產品 | 數量 | |
|---|---|---|---|
| 5190-8702 | OneSeq Constitutional Research Panel | 16 rxns | |
| 5190-8703 | OneSeq Constitutional Research Panel | 96 rxns | |
| 5190-8704 | OneSeq Constitutional Research Panel | 96 rxns Auto |
OneSeq Constitutional Research Panel
- Comprehensive, all-in-one detection of genome-wide CNVs, copy-neutral LOH, SNPs, and indels in one target enrichment capture.
- OneSeq Constitutional Research Panel: Comprised of 300 kb functional copy number resolution genome-wide, with higher resolution of 25-50 kb in disease-associated ClinGen regions, copy-neutral LOH as small as 5 Mb, PLUS gene targets from the SureSelect Focused Exome panel.
- Coding sequence data and copy number variants in one capture with 7Gb of sequencing providing deep and comprehensive coverage: >95% at 20x.
- Integrated data analysis -- Analyze, visualize and contextualize OneSeq data using SureCall software, without the need for coding or special hardware.
- OneSeq provides more information in a single reaction, streamlining workflows for a more complete picture.
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