Up next in the first #ASHG20 plenary session is my former Daly lab colleague, @HHeyne, presenting work from @FinnGen_FI on "Recessive effects of 82,516 coding variants in 176,899 Finns."
Bottleneck in Finland makes the Finnish population and @FinnGen_FI ideal for understanding ultra-rare variants that stochastically rose in frequency #ASHG20
Using SAIGE, ran GWAS using 1) a recessive model and 2) additive model on all coding variants in @FinnGen_FI.
For the majority of coding variants, additive model performs better. However, the recessive model performed 2x better for some variants. #ASHG20
For the majority of coding variants, additive model performs better. However, the recessive model performed 2x better for some variants. #ASHG20
As a positive control, identified GJB2 for hearing loss that was only significant using a recessive model (additive model was not significant).
While both compound heterozygotes and homozygotes were significant, hazard ratio for compound het of 6.1 less than hom HR of 13. #ASHG20
While both compound heterozygotes and homozygotes were significant, hazard ratio for compound het of 6.1 less than hom HR of 13. #ASHG20
Identified 4 novel recessive gene-disease associations.
A missense variant in CASP7 associated with cataracts (P=2e-16).
missense variant in C10orf90 for hearing loss (p=2e-12; beta=6)
#ASHG20
A missense variant in CASP7 associated with cataracts (P=2e-16).
missense variant in C10orf90 for hearing loss (p=2e-12; beta=6)
#ASHG20
missense variant in C15orf40 for demyelinating disorders of the CNS (p=4e-8)
Noncoding variant in EBAG9 involved in female infertility (p=9e-12; beta=0.8)
#ASHG20
Noncoding variant in EBAG9 involved in female infertility (p=9e-12; beta=0.8)
#ASHG20
Found that women that were homozygous for EBAG9 had 1) children later in life and 2) fewer children than women that were homozygous for the wild-type variant. #ASHG20
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