NIBSC has an ongoing programme to develop WHO International Standards for cancer genomics which includes the capture of not only clinically-relevant variants, but also wider genome sequencing information which may be useful for the validation of next-generation sequencing pipelines.
Additionally, some of our disease-specific reference materials are well-suited to addressing common difficulties in NGS.
Control material available for:
MSH2 – Exon 1 deletion (GC content 65.7%)Also MSH2 – Exons 1-2 deletion; MSH2 – Exons 1-6 deletionSee: 11/218: MLH1/MSH2 Exon Copy Number Reference Panel
MSH2 - Intron 5 c.942+3A>T at Exon 5 /Intron 5 junction. Splice site mutation next to start of a 27bp intronic poly‐A tractExon 5 --ATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGC—Intron 5
See: 11/218: MLH1/MSH2 Exon Copy Number Reference Panel
Intra-chromosomal inversion (Chr. X)
Samples within the panel contain this inversion on the X-chromosome in hemizygous and heterozygous form.
See: 08/160: Factor VIII intron 22 Inversion (Haemophilia, WHO)
Putative control material available for:
Probable Chr.15 uniparental isodisomy in 07/234 sample within panel 09/140: Prader Willi and Angelman Syndromes (WHO) – isodisomic mutation has been inferred but awaits confirmation.
Dr Ross Hawkins – Section HeadDr Ravneet BhullerMr Malcolm Hawkins Dr Leandro Lo CascioMr Noble OssaiDr Pia SanzoneMr Miltiades Stylianou
11/218: Lynch/HNPCC (MLH1/MSH2; CE) 18/164: ATDB102 Reference Genome (WHO) 18/118: HCT 15 Cancer Genome (WHO)18/130: MOLT-4 Cancer Genome (WHO)08/160: Factor VIII intron 22 inversion (Haemophilia A; WHO)09/140: Prader Willi and Angelman Syndrome (WHO)
Other genomic reference materials
Further information on ordering genomic reference materials from NIBSC.