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Whole Exome Sequencing of Chronic Lymphocytic Leukemia

Demographics (2)

Disease Events (1)

  • Primary Disease - The main disease(s) for which the participant has been asked to donate a sample for study (phv00165096.v3.p1)

Other (21)

  • ANALYTE_Type - Molecular analyte (phv00165110.v3.p1)
  • CONSENT - Consent group as determined by DAC (phv00165090.v3.p1)
  • Del11q - Del11q is measured by FISH cytogenetic analysis of CLL tumor, and is associated with poor prognosis. Cutoff score is 5%. (phv00165103.v3.p1)
  • Del13qhet - Del13qhet is measured by FISH cytogenetic analysis of CLL tumor. Del13qhet is chromosome 13q deletion in one allele. Cutoff score is 7%. Del13q is the most common chromosomal abnormalities in CLL and is associated with better prognosis. (phv00165101.v3.p1)
  • Del13qhomo - Del13qhomo is measured by FISH cytogenetic analysis of CLL tumor. Del13qhomo is deletion of the 13q region in two alleles. Cutoff score is 7%. Del13q is the most common chromosomal abnormalities in CLL and is associated with better prognosis. (phv00165102.v3.p1)
  • Del17p - Del17p is measured by FISH cytogenetic analysis of CLL tumor. The deleted region includes TP53, and is associated with poor prognosis. Cutoff score is 8%. (phv00165104.v3.p1)
  • IGHV - IGHV is mutation status of the immunoglobulin heavy chain variable region. When the DNA sequence homology of CLL tumor is less than 98% compared to reference, it is designated as "mutated". Homology >98% is considered "unmutated." IGHV mutation status is a CLL prognosis marker; IGHV mutated status is associated with good prognosis. (phv00165098.v3.p1)
  • SAMPID - De-identified Sample ID (phv00165105.v3.p1)
  • SAMPID - Sample ID (phv00165092.v3.p1)
  • Sample Type - Indicates the Tumor / Normal status of a sample (phv00165106.v3.p1)
  • SAMPLE_USE - Data type to be submitted. Array_SNP: SNP genotypes obtained using standard or custom microarrays; Seq_DNA_Methylation: Methylome sequencing; Seq_DNA_SNP_MAF_Sum: Samples were used to generate aggregate mutation annotation file (.maf); Seq_DNA_WholeExome: Whole exome sequencing; Seq_DNA_WholeGenome: Whole genome sequencing; Seq_RNA: Whole transcriptome sequencing (phv00167262.v3.p1)
  • SOURCE_SUBJID - Subject Identifier in New England Journal Reference (phv00181308.v2.p1)
  • SOURCE_SUBJID2 - Subject Identifier in Cell paper (phv00181310.v2.p1)
  • SUBJ_SOURCE - New England Journal Reference: Wang L., Lawrence M.S., Wan Y., et al. N Engl J Med 2011; 365: 2497-2506, <a href="http://www.ncbi.nlm.nih.gov/pubmed/22150006">PMID: 22150006S</a> (phv00181307.v2.p1)
  • SUBJ_SOURCE_2 - Cell Paper Reference: Landau D.A., Carter S.L., Stojanov P., et al., Cell. 2013 Feb 14; 152(4): 714-26, <a href="http://www.ncbi.nlm.nih.gov/pubmed/23415222">PMID: 23415222</a> (phv00181309.v2.p1)
  • SUBJID - Unique Participant Identifier (phv00165093.v3.p1)
  • SUBJID - Subject ID (phv00165089.v3.p1)
  • SUBJID - Subject ID (phv00165091.v3.p1)
  • Trisomy 12 - Trisomy 12 is measured by FISH cytogenetic analysis. Cutoff score is 2%. Trisomy 12 is a neutral prognosis marker. (phv00165100.v3.p1)
  • Tumor Type - Indicates primary or recurrent tumor (phv00165109.v3.p1)
  • ZAP70 - ZAP70 is CLL prognosis marker and positive expression is associated with poor prognosis. ZAP70 expression level is measured by flow cytometry and the cutoff score is 24%. (phv00165099.v3.p1)