Product Description
Recommended use:
These products are ideal for digital PCR and/or Next Generation Sequencing (NGS). In particular:
1. Validation and development of sequencing protocols (e.g. Whole Genome Sequencing (WGS), Amplicon Sequencing) and PCR protocols
2. spike-in experiments with synthetic cfDNA
3. Control in workflow validations
4. Analyze the performance of your NGS pipeline by comparing to freely available datasets
5. Negative Control for EGFR mutations (p.G719S, p.E746_A750delELREA, p.S752_I759delSPKANKEI, p.S768I, p.V769_D770insASV, p.T790M, p.L858R, p.L861Q)
6. Negative Control for 5 Gene Multiplex mutations (AKT1 – p.E17K;BRAF – p.V600E; ERBB2 – p.Y772_A775dup; KRAS – p.G12D, p.Q61K, p.A146T; PIK3CA – p.E545K, p.H1047R)
7. Negative Control for PIK3CA-11 mutations 12.5% AF cfDNA (SID-000099) (C420R – E542K – E545A – E545D – E545G – E545K – Q546E – Q546R – H1047L – H1047R – H1047Y)
Unit Size:
400 ng
Concentration:
20 ng/µl
Buffer:
Tris-EDTA (10 mM Tris, 1 mM EDTA), pH 8.0
Storage:
2-8 °C
Expiry:
stable for 24 months from date of manufacture (as supplied)
Quality control
Fragmentation size:
High Sensitivity DNA Kit Agilent
Allelic Frequency:
Next Generation Sequencing
Quantification:
UV-Vis Spectrophotometry (NIST-Reference method)
Technical background
Derived from:
The Genome In A Bottle (GIAB) cell line GM24385 (HG002- NA24385 – huAA53E0 – Ashkenazim son))
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/
