PMC:6218809 / 19409-20780 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6218809","sourcedb":"PMC","sourceid":"6218809","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6218809","text":"To further characterize the somatic variation observed in HG02554, we Illumina sequenced at high depth (50×) HG02554 DNA purchased directly from Coriell Cell Repositories and extracted from their HG02554 lymphoblastoid cell line rather than extracted from our cell lines, together with peripheral-blood derived genomic DNA from two Tanzanian DUP4 homozygotes and two Tanzanian DUP4 heterozygotes. Analysis of sequence read depth across the glycophorin repeat region showed the same pattern as that observed previously,5 leading to a model that is confirmed by our fiber-FISH data (Figure 2A). DUP4 homozygotes show the expected increase to four copies and six copies in duplicated and triplicated regions, respectively.\nFigure 2 Sequence Read Depth Analysis of DUP4 Homozygotes and Heterozygotes\n(A) Normalized sequence read depth of 5 kb windows spanning the reference sequence glycophorin region for five samples. The lines show the Loess regression line (f = 0.1) for homozygotes (blue) and heterozygotes (green). Gene positions and repeats, with respect to the reference sequence, are shown above the plot.\n(B) The difference in HG02554 sequence read depth compared to the average sequence read depth of the two other heterozygotes C05E and C05P is shown in 5 kb windows across the glycophorin region. Points highlighted in red are significantly different (p \u003c 0.01).","divisions":[{"label":"label","span":{"begin":720,"end":728}},{"label":"p","span":{"begin":729,"end":795}},{"label":"p","span":{"begin":796,"end":1110}}],"tracks":[{"project":"2_test","denotations":[{"id":"30388403-28450586-2049236","span":{"begin":518,"end":519},"obj":"28450586"}],"attributes":[{"subj":"30388403-28450586-2049236","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#93deec","default":true}]}]}}