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hapmap cell line gm12878  (National Institute of Standards and Technology)

 
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    National Institute of Standards and Technology hapmap cell line gm12878
    Potential clinical applications of OSU-SpARKFuse. A: Venn diagram representing concordance of variant calls from OSU-SpARKFuse and high-confidence variant calls from National Institute of Standards and Technology (NIST) for the <t>GM12878</t> cell line. B: Genome Browser screen shot depicting C to G bp substitution, resulting in a C481S mutation in a patient with chronic lymphocytic leukemia resistant to treatment with ibrutinib. C: Mean exon-level read depth for indicated MET exons (https://www.ncbi.nlm.nih.gov/refseq; accession number NM_001127500). Red text indicates skipped exon. Asterisk represents untranslated region not covered by OSU-SpARKFuse probes.
    Hapmap Cell Line Gm12878, supplied by National Institute of Standards and Technology, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/hapmap+cell+line+gm12878/pmc05975628-339-13-23?v=National+Institute+of+Standards+and+Technology
    Average 90 stars, based on 1 article reviews
    hapmap cell line gm12878 - by Bioz Stars, 2026-07
    90/100 stars

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    1) Product Images from "Validation of a Targeted RNA Sequencing Assay for Kinase Fusion Detection in Solid Tumors"

    Article Title: Validation of a Targeted RNA Sequencing Assay for Kinase Fusion Detection in Solid Tumors

    Journal: The Journal of Molecular Diagnostics : JMD

    doi: 10.1016/j.jmoldx.2017.05.006

    Potential clinical applications of OSU-SpARKFuse. A: Venn diagram representing concordance of variant calls from OSU-SpARKFuse and high-confidence variant calls from National Institute of Standards and Technology (NIST) for the GM12878 cell line. B: Genome Browser screen shot depicting C to G bp substitution, resulting in a C481S mutation in a patient with chronic lymphocytic leukemia resistant to treatment with ibrutinib. C: Mean exon-level read depth for indicated MET exons (https://www.ncbi.nlm.nih.gov/refseq; accession number NM_001127500). Red text indicates skipped exon. Asterisk represents untranslated region not covered by OSU-SpARKFuse probes.
    Figure Legend Snippet: Potential clinical applications of OSU-SpARKFuse. A: Venn diagram representing concordance of variant calls from OSU-SpARKFuse and high-confidence variant calls from National Institute of Standards and Technology (NIST) for the GM12878 cell line. B: Genome Browser screen shot depicting C to G bp substitution, resulting in a C481S mutation in a patient with chronic lymphocytic leukemia resistant to treatment with ibrutinib. C: Mean exon-level read depth for indicated MET exons (https://www.ncbi.nlm.nih.gov/refseq; accession number NM_001127500). Red text indicates skipped exon. Asterisk represents untranslated region not covered by OSU-SpARKFuse probes.

    Techniques Used: Variant Assay, Mutagenesis



    Similar Products

    hapmap cell line gm12878  (National Institute of Standards and Technology)
    90
    National Institute of Standards and Technology hapmap cell line gm12878
    Potential clinical applications of OSU-SpARKFuse. A: Venn diagram representing concordance of variant calls from OSU-SpARKFuse and high-confidence variant calls from National Institute of Standards and Technology (NIST) for the <t>GM12878</t> cell line. B: Genome Browser screen shot depicting C to G bp substitution, resulting in a C481S mutation in a patient with chronic lymphocytic leukemia resistant to treatment with ibrutinib. C: Mean exon-level read depth for indicated MET exons (https://www.ncbi.nlm.nih.gov/refseq; accession number NM_001127500). Red text indicates skipped exon. Asterisk represents untranslated region not covered by OSU-SpARKFuse probes.
    Hapmap Cell Line Gm12878, supplied by National Institute of Standards and Technology, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/hapmap+cell+line+gm12878/pmc05975628-339-13-23?v=National+Institute+of+Standards+and+Technology
    Average 90 stars, based on 1 article reviews
    hapmap cell line gm12878 - by Bioz Stars, 2026-07
    90/100 stars
    		  Buy from Supplier

    Image Search Results


    Potential clinical applications of OSU-SpARKFuse. A: Venn diagram representing concordance of variant calls from OSU-SpARKFuse and high-confidence variant calls from National Institute of Standards and Technology (NIST) for the GM12878 cell line. B: Genome Browser screen shot depicting C to G bp substitution, resulting in a C481S mutation in a patient with chronic lymphocytic leukemia resistant to treatment with ibrutinib. C: Mean exon-level read depth for indicated MET exons (https://www.ncbi.nlm.nih.gov/refseq; accession number NM_001127500). Red text indicates skipped exon. Asterisk represents untranslated region not covered by OSU-SpARKFuse probes.

    Journal: The Journal of Molecular Diagnostics : JMD

    Article Title: Validation of a Targeted RNA Sequencing Assay for Kinase Fusion Detection in Solid Tumors

    doi: 10.1016/j.jmoldx.2017.05.006

    Figure Lengend Snippet: Potential clinical applications of OSU-SpARKFuse. A: Venn diagram representing concordance of variant calls from OSU-SpARKFuse and high-confidence variant calls from National Institute of Standards and Technology (NIST) for the GM12878 cell line. B: Genome Browser screen shot depicting C to G bp substitution, resulting in a C481S mutation in a patient with chronic lymphocytic leukemia resistant to treatment with ibrutinib. C: Mean exon-level read depth for indicated MET exons (https://www.ncbi.nlm.nih.gov/refseq; accession number NM_001127500). Red text indicates skipped exon. Asterisk represents untranslated region not covered by OSU-SpARKFuse probes.

    Article Snippet: To gauge the accuracy of identifying SNPs from RNAseq data, we used the HapMap cell line GM12878 that was extensively characterized by the National Institute of Standards and Technology (NIST) and has publically available data for high-confidence SNP calls based on various DNAseq methods.

    Techniques: Variant Assay, Mutagenesis