Grateful to all collaborators — @hilarycmartin.bsky.social @ericfauman.bsky.social @sarahfiner.bsky.social @astheeggeggs.bsky.social — and to the Genes & Health participants who made this possible. Please read our preprint for more details!

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

Recessive association scan (a recessive #GWAS), testing for 54 quantitative alongside 439 binary phenotypes derived from EHR. We identified 13 genome-wide significant associations (P < 2.9×10⁻⁷), highlighting both known and novel signals.

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.