Selected article for: "sequence variant and variant sequence"

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_26
    Snippet: In addition to those noted above, several other IGKV genes are also classified as ORF genes based on irregular regulatory sequence motifs 27 . Notably, IGKV2D-29*02, previously referred to as "VA2c", has a non-canonical V-heptamer, but has also been shown to occur in productive rearrangements; thus, like IGKV1-8 and IGKV1D-13 alleles described in CH17, the expression of IGKV2D-29*02 could be explained by a previously undescribed regulatory sequen.....
    Document: In addition to those noted above, several other IGKV genes are also classified as ORF genes based on irregular regulatory sequence motifs 27 . Notably, IGKV2D-29*02, previously referred to as "VA2c", has a non-canonical V-heptamer, but has also been shown to occur in productive rearrangements; thus, like IGKV1-8 and IGKV1D-13 alleles described in CH17, the expression of IGKV2D-29*02 could be explained by a previously undescribed regulatory sequence variant.

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