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蚂蚁淘在线 / 品牌中心 / Illumina / Illumina/TG TruSight Inherited Disease Sequencing Panel (48 Samples)/TG-141-1005/1 Ea
商品描述
ProductHighlights:
- DevelopedincollaborationwithDr.StephenKingsmoreandteamduringhistenureatChildren"sMercyHospital(CMH)forPediatricGenomicMedicine,Dr.CarolSaundersatCMH,andDr.HilgerRopersattheMaxPlanckInstitute
- Targets552genes,includingcodingexons,intron-exonboundaries,andregionsknowntoharborpathogenicmutations
TruSightInheritedDiseasewasinitiallybasedona448diseasepaneldesignedforpreconceptioncarriertestingforsevere,recessivechildhooddiseasespublishedbyDr.KingsmoreandteaminScienceTranslationalMedicine1.
TheoriginalcontentwasrevisedbyDr.Saunders,FACMG,atCMH(followingACMGguidelinesfortestingultra-raregeneticdiseases)toreflecttheneedsofmedicalgeneticistswithaprimaryfocusonsevererecessivediseaseswithchildhoodonset.IntellectualdisABIlitygeneswereaddedbyDr.Ropers.
TheTruSightInheritedDiseasesequencingpanelsetincludescustomoligostargetingidentifiedregionsofinterest.Sufficientproductissuppliedforfourenrichmentreactions.
Specifications:
| InputQuantity | 50ngDNA |
| SystemCompatibility | MiSeq,NextSeq550,MiSeqDxinResearchMode,MiniSeq,NextSeq500,HiSeq2500 |
| VariantClass | SingleNucleotidePolymorphisms(SNPs),GermlineVariants |
| SpecializedSampleTypes | LowInput |
| Technology | Sequencing |
| SpeciesCategory | Human |
| Method | TargetedDNASequencing |
