New Paper by Lorin Crawford and Sohini Ramachandran

Lorin Crawford, Distinguished Senior Fellow in Biostatistics, and Sohini Ramachandran, Hermon C. Bumpus Professor of Biology and Data Science and Professor of Computer Science, recently published a paper titled, “Discovering non-additive heritability using additive GWAS summary statistics.”

Below is the abstract:

LD score regression (LDSC) is a method to estimate narrow-sense heritability from genome-wide association study (GWAS) summary statistics alone, making it a fast and popular approach. In this work, we present interaction-LD score (i-LDSC) regression: an extension of the original LDSC framework that accounts for interactions between genetic variants. By studying a wide range of generative models in simulations, and by re-analyzing 25 well-studied quantitative phenotypes from 349,468 individuals in the UK Biobank and up to 159,095 individuals in BioBank Japan, we show that the inclusion of a cis-interaction score (i.e. interactions between a focal variant and proximal variants) recovers genetic variance that is not captured by LDSC. For each of the 25 traits analyzed in the UK Biobank and BioBank Japan, i-LDSC detects additional variation contributed by genetic interactions. The i-LDSC software and its application to these biobanks represent a step towards resolving further genetic contributions of sources of non-additive genetic effects to complex trait variation.

Congratulations Sohini and Lorin!