Data from: Non-additive association analysis using proxy phenotypes identifies novel cattle sydromes

Mammalian species carry ~100 loss-of-function variants per individual,
where ~1-5 of these impact essential genes and cause embryonic lethality
or severe disease when homozygous. The functions of the remainder are more
difficult to resolve, though are assumed to impact fitness in less
manifest ways.  Here, we present data behind one of the largest
sequence-resolution screens of cattle to date, targeting discovery and
validation of non-additive effects in 130,725 animals. We highlight six
novel recessive loci with impacts generally exceeding the largest effect
variants identified from additive GWAS, presenting analogues of human
diseases and hitherto unrecognised disorders. These loci present
compelling missense (PLCD4, MTRF1, DPF2), premature stop (MUS81), and
splice-disrupting mutations (GALNT2, FGD4), together explaining
substantial proportions of inbreeding depression. These results
demonstrate that the frequency distribution of deleterious alleles
segregating in selected species can afford sufficient power to directly
map novel disorders, presenting selection opportunities to minimise the
incidence of genetic disease.