Selected article for: "gene prediction and single variant"
Author: Corey T Watson; Karyn Meltz Steinberg; Tina A Graves-Lindsay; Rene L Warren; Maika Malig; Jacqueline E Schein; Richard K Wilson; Rob Holt; Evan Eichler; Felix Breden
Title: Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity
  • Document date: 2014_7_3
    • ID: 62gfisc6_12
    Snippet: A direct comparison of the IGL CH17 and Kawasaki haplotypes revealed the presence of only a single structural variant. This 11.9 Kbp insertion was located in the region between the psuedogenes IGLV7-35 and IGLV2-34 within the BAC, CH17-242N13; the region between these pseudogenes spans ~120 Kbp and is devoid of IG genes. Gene prediction analysis did not identify any genes within the insertion, nor did the insertion disrupt the non-IG related gene.....
    Document: A direct comparison of the IGL CH17 and Kawasaki haplotypes revealed the presence of only a single structural variant. This 11.9 Kbp insertion was located in the region between the psuedogenes IGLV7-35 and IGLV2-34 within the BAC, CH17-242N13; the region between these pseudogenes spans ~120 Kbp and is devoid of IG genes. Gene prediction analysis did not identify any genes within the insertion, nor did the insertion disrupt the non-IG related genes, ZNF280B, ZNF280A, and PRAME, located in this region; the breakpoints of the event occurred between ZNF280A and PRAME. No structural variants were observed in the IGK CH17 haplotype.

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