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
Fragmentation Size (peak)
~167 bp
Unit Size:
80 ng/ml (total 400 ng)
Mutation:
AA Change (Cosmic ID, mutation type, HGVS nomenclature, Exon)
- p.G719S (COSV51767289*, Substitution, c.2155G>A, Exon 18)
- p.E746_A750delELREA (COSV51765066*, Deletion, c.2236_2250del15, Exon 19)
- p.S752_I759delSPANKEI (COSV51774879*, Deletion, c.2254_2277del24, Exon 19)
- p.S768I (COSV51768106*, Substitution, c.2303G>T, Exon 20)
- p.V769_D770insASV (COSV51850427*, Insertion, c.2303_2304ins9, Exon 20)
- p.T790M (COSV51765492*, Substitution, c.2369C>T, Exon 20)
- p.L858R (COSV51765161*, Substitution, c.2573T>G, Exon 21)
- p.L861Q (COSV51766344 *, Substitution, c.2582T>A, Exon 21)
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)
Qubit Fluorometry
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
