Product description
These products are ideal for Next Generation Sequencing (NGS) workflows. In particular:
– Validation and development of sequencing protocols (e.g. Whole Genome Sequencing (WGS), Amplicon Sequencing) and PCR protocols
– Calibration and development of instruments and workflows in DNA processing (e.g. DNA fragmentation via acoustic shearing, enzymatic digestion or sonication)
– Analyze the performance of your NGS pipeline by comparing to freely available datasets
Unit Size:
5 µg
Concentration:
50 ng/µl
Mutation:
AA Change (Cosmic ID, Mutation type, HGVS Nomenklatur, Exon)
- p.G719S (COSM6252*, Substitution, c.2155G>A, Exon 18)
- p.E746_A750delELREA (COSM6225*, Deletion, c.2236_2250del15, Exon 19)
- p.S752_I759delSPANKEI (COSM6256*, Deletion, c.2254_2277del24, Exon 19)
- p.S768I (COSM6241*, Substitution, c.2303G>T, Exon 20)
- p.V769_D770insASV (COSM20884*, Insertion, c.2303_2304ins9, Exon 20)
- p.T790M (COSM6240*, Substitution, c.2369C>T, Exon 20)
- p.L858R (COSM6224*, Substitution, c.2573T>G, Exon 21)
- p.L861Q (COSM6213*, Substitution, c.2582T>A, Exon 21)
Allelic frequency:
0%
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
Allelic Frequency:
dPCR
Quantification:
UV-Vis Spectrophotometry (NIST-reference method)
Quality:
Agarose gel electrophoresis
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/
