Product Description
These products are ideal for digital PCR and/or Next Generation Sequencing (NGS). In particular:
– Validation and development of sequencing protocols (e.g. Whole Genome Sequencing (WGS), Amplicon Sequencing) and PCR protocols
– Determination of the detectiont limit of the method
– to control the extraction efficiency
Unit Size:
80 ng/ml (total 400 ng)
Mutation:
- AA Change p.G719S
- Cosmic ID COSM6252*
- Mutation type substitution
- HGVS Nomenklatur c.2155G>A
- Exon 18
Allelic frequency:
0,1%
Buffer:
Plasma (human-tech)
Storage:
2-8 °C
Expiry:
stable for 12 months from date of manufacture (as supplied)
Quality control
Fragmentation size:
High Sensitivity DNA Kit Agilent
Allelic Frequency:
dPCR
Quantification:
UV-Vis Spectrophotometry (NIST-Reference method)
Technical background
Derived from:
cell line GM24385 (HG002- NA24385 – huAA53E0)
Bioinformatics:
– lot specific sequencing files: LOT Search
– High-confidence variant calls: ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio
– Raw datasets and bam files, currently including 10X Genomics, BioNano, Complete Genomics regular and LFR, 300x Illumina paired-end, Illumina 6kb mate-pair, 1000x Ion exome, custom moleculo libraries, ~0.05x Oxford Nanopore, and 70x/30x/30x PacBio: ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/AshkenazimTrio/HG002_NA24385_son/
*GRCh 38 Cosmic v88
Indications: For Research Use Only
Manufactured by: SensID GmbH
