nstd154 (Möller et al. 2017)
- Organism:
- Human
- Study Type:
- Control Set
- Submitter:
- Mattias Möller
- Description:
- This study described two previously uncharacterized deletions in ABO found in the 1000 Genomes (1000G) dataset during the Erythrogene project. A 5,821-bp deletion encompassing exons 5-7 was called in twenty 1000G individuals, predominantly Africans. Screening of 93 African samples revealed three heterozygous donors. The allele was confirmed and its exact deletion point defined by bioinformatic analyses, allele-specific PCR and Sanger sequencing. We estimate it to be the 3rd most common mechanism behind O alleles. A 24-bp deletion was called in nine individuals by 1000G, but could neither be confirmed by in silico nor in vitro experiments. This emphasizes cautious interpretation of NGS data. See Variant Summary counts for nstd154 in dbVar Variant Summary.
- Publication(s):
- Möller et al. 2017