Georgios (Yiorgos) Kalantzis
@yiorkala.bsky.social
Postdoc @sangerinstitute.bsky.social | statistical and population genetics | previously @ox.ac.uk @stedmundhall.bsky.social
Joint additive/dominant model: For each of those 13 hits, we then assessed a 2-df model which revealed three associations - all novel - with strong recessive patterns
– NLRP10 → Viral pneumonia risk
– HSD17B14 → Bone density disorders
– NCAPD2 → Vitamin B₁₂ levels
– NLRP10 → Viral pneumonia risk
– HSD17B14 → Bone density disorders
– NCAPD2 → Vitamin B₁₂ levels
June 12, 2025 at 10:33 AM
Joint additive/dominant model: For each of those 13 hits, we then assessed a 2-df model which revealed three associations - all novel - with strong recessive patterns
– NLRP10 → Viral pneumonia risk
– HSD17B14 → Bone density disorders
– NCAPD2 → Vitamin B₁₂ levels
– NLRP10 → Viral pneumonia risk
– HSD17B14 → Bone density disorders
– NCAPD2 → Vitamin B₁₂ levels
Statistical phasing & identification of compound-heterozygous genotypes that boosted the total number of rare (MAF < 5%) biallelic pLoF or damaging genotypes by 45%, to a total of 179,379.
June 12, 2025 at 10:33 AM
Statistical phasing & identification of compound-heterozygous genotypes that boosted the total number of rare (MAF < 5%) biallelic pLoF or damaging genotypes by 45%, to a total of 179,379.