nstd124 (Binder et al. 2016)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Andrew Fox
- Description:
- We applied whole genome sequencing to a DNA sample from a Multiple Sclerosis (MS) affected patient. This individual had previously been genotyped at multiple SNPs within the MERTK gene and was determined to be homozygous for the MS risk-associated haplotype at this gene locus. To interrogate the MS risk haplotype at this locus in an unbiased way, we sequenced the whole genome of this MS - MERTK homozygous-risk subject. We identified a large number of SNPs and small indels within the risk haplotype, and also identified a retrotransposon insertion within intron 4 (type AluYf4), and also identified an expanded (TA)n(T)m tandem repeat region within intron 1. See Variant Summary counts for nstd124 in dbVar Variant Summary.
- Publication(s):
- Binder et al. 2016
- Last updated:
- 2016-02-01