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)
Mutations:
- AKT1 – p.E17K (COSV62571334*, Substitution, c.49G>A)
- BRAF – p.V600E (COSV56056643*, Substitution, c.1799T>A)
- ERBB2 – p.Y772_A775dup (COSV54062409*, Insertion, c.2323_2324dup)
- KRAS – p.G12D (COSV55497369*, Substitution, c.35G>A)
- KRAS – p.Q61K (COSV55502066*, Substitution, c.181C>A)
- KRAS – p.A146T (COSV55501778*, Substitution, c.436G>A)
- PIK3CA – p.E545K (COSV55873239*, Substitution, c.1633G>A)
- PIK3CA – p.H1047R (COSV55873195*, Substitution, c.3140A>G)
Allelic frequency:
5%
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
