Summary and breakdown of DNA variants (of a single person)

Range Table - link
Organism Human Homo sapiens
Reference Chen R et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell. 2012 Mar 16 148(6):1293-307. doi: 10.1016/j.cell.2012.02.009. p.1296 table 1PubMed ID22424236
Method P.1294 left column 3rd paragraph: "Overview of Personal Omics Profiling: [Researchers'] overall iPOP (integrative personal omics profile) strategy was to: (1) determine the genome sequence at high accuracy and evaluate disease risks, (2) monitor omics components over time and integrate the relevant omics information to assess the variation of physiological states, and (3) examine in detail the expression of personal variants at the level of RNA and protein to study molecular complexity and dynamic changes in diseased states."
Comments P.1294 right column 4th paragraph: "[Researchers'] analysis detected many single nucleotide variants (SNVs), small insertions and deletions (indels) and structural variants (SVs large insertions, deletions, and inversions relative to hg19), (summarized in Table 1 and Experimental Procedures)." P.1301 left column 2nd paragraph: "Of the 49,017 genomic variants associated with coding or UTR regions (Table 1), 12,785 (26%) were expressed in PBMCs (peripheral blood mononuclear cells) (R40 read coverage Table S3). A total of 8,509 of the variants are heterozygous (1,113 missense) and the remainder (4,686 - 684 missense) are homozygous. Eight of the 83 nonsense mutations were expressed indicating that not all nonsense mutations result in transcript loss."
Entered by Uri M
ID 110117