TruSight Inherited Disease Sequencing Panel
TruSight Inherited Disease是一款专注于552个与隐性遗传的严重儿童期发病疾病相关基因的靶向测序研究panel。Read More...
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TruSight Inherited Disease was initially based on a 448 disease panel designed for preconception carrier testing for severe, recessive childhood diseases published by Dr. Kingsmore and team in Science Translational Medicine1.
The original content was revised by Dr. Saunders, FACMG, at CMH (following ACMG guidelines for testing ultra-rare genetic diseases) to reflect the needs of medical geneticists with a primary focus on severe recessive diseases with childhood onset. Intellectual disability genes were added by Dr. Ropers.
The TruSight Inherited Disease sequencing panel set includes custom oligos targeting identified regions of interest. Sufficient product is supplied for four enrichment reactions.
| 仪器 | 推荐的样本数 | 读长 |
|---|---|---|
| MiSeq System | Samples per run (by reagent kit version): v2: 4, v3: 8 (based on 150x mean coverage of targeted content) | Up to 2 × 150 bp |
| NextSeq 550 System | Samples per run: mid output: 48, high output: 96 (based on 150x mean coverage of targeted content) | Up to 2 × 150 bp |
| TruSight Inherited Disease | TruSight One Sequencing Panels | TruSight Cardio Sequencing Kit | |
|---|---|---|---|
| Content Specifications | 2.25 Mb genomic content (552 genes) | TruSight One：约12 Mb基因组内容（约4800个基因）。 TruSight One Expanded：约16.5 Mb基因组内容（约6700个基因）。 |
575 Kb基因组内容（174个基因） |
| Description | Fixed research panel focused on severe pediatric onset disorders. | 固定基因集的panel，专注于具有致病变异的外显子区域。 | 此款靶向测序研究panel有助于鉴定与17种遗传性心脏病相关的遗传变异。 |
| Input Quantity | 50 ng DNA | 50 ng DNA | 50 ng DNA |
| Method | 靶向DNA测序 , 靶向富集 | 靶向DNA测序 , 靶向富集 | 靶向DNA测序 , 靶向富集 |
| Multiplexing | Up to 96-plex | 多达96重 | 多达96重 |
| Specialized Sample Types | Not FFPE-Compatible | Not FFPE-Compatible | Not FFPE-Compatible |
Coverage uniformity is given for 6 samples with respect to the percentage of targeted regions at varying mean normalized read depths. The 6 samples were prepared and then enriched using the TruSight Rapid Capture Kit along with the TruSight Inherited Disease sequencing panel. Over 95% of bases (> 2.0 Mb) were covered at 0.2x mean coverage for each sample.
Illumina VariantStudio Data Analysis Software
Data Sheet | PDF2 MB
TruSight Inherited Disease Sequencing Panel
Data Sheet | PDF< 1 MB
TruSight Inherited Disease Gene List
product_file | EXCEL< 1 MB
Note regarding biomarker patents and other patents unique to specific uses of products:
Some genomic variants, including some nucleic acid sequences, and their use in specific applications may be protected by patents. Customers are advised to determine whether they are required to obtain licenses from the party that owns or controls such patents in order to use the product in customer's specific application.