hapmap cell line gm12878 Search Results


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
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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